NA00232
DNA from Fibroblast
Description:
SPINAL MUSCULAR ATROPHY I; SMA1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
2.81 |
| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
SMN1 |
| Chromosomal Location |
5q12.2-q13.3 |
| Allelic Variant 1 |
exons 7 and 8 deleted; SPINAL MUSCULAR ATROPHY, TYPE I |
| Identified Mutation |
EX7-8DEL |
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| Gene |
SMN1 |
| Chromosomal Location |
5q12.2-q13.3 |
| Allelic Variant 2 |
exons 7 and 8 deleted; SPINAL MUSCULAR ATROPHY, TYPE I |
| Identified Mutation |
EX7-8DEL |
| Remarks |
Progressive muscular atrophy; absent deep tendon reflexes; abnormal EMG; donor subject has 2 copies of the SMN2 gene (data from several sources including Stabley et al. 2015, PMID 26247043) and is homozygous for deletion of exons 7 and 8 of the SMN1 gene. |
| Kordala AJ, Stoodley J, Ahlskog N, Hanifi M, Garcia Guerra A, Bhomra A, Lim WF, Murray LM, Talbot K, Hammond SM, Wood MJ, Rinaldi C, PRMT inhibitor promotes SMN2 exon 7 inclusion and synergizes with nusinersen to rescue SMA mice EMBO molecular medicine:e17683 2023 |
| PubMed ID: 37724723 |
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| Januel C, Menduti G, Mamchaoui K, Martinat C, Artero R, Konieczny P, Boido M, Moxifloxacin rescues SMA phenotypes in patient-derived cells and animal model Cellular and molecular life sciences : CMLS79:441 2022 |
| PubMed ID: 35864358 |
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| Wijaya YOS, Niba ETE, Nishio H, Okamoto K, Awano H, Saito T, Takeshima Y, Shinohara M, High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed Genes13:441 2022 |
| PubMed ID: 35456491 |
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| Gabanella F, Onori A, Ralli M, Greco A, Passananti C, Di Certo MG, SMN protein promotes membrane compartmentalization of ribosomal protein S6 transcript in human fibroblasts Scientific reports10:19000 2020 |
| PubMed ID: 33149163 |
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| Jiang L, Lin R, Gallagher S, Zayac A, Butchbach MER, Hung P, Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument Scientific reports10:19892 2020 |
| PubMed ID: 33199817 |
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| Son YS, Choi K, Lee H, Kwon O, Jung KB, Cho S, Baek J, Son B, Kang SM, Kang M, Yoon J, Shen H, Lee S, Oh JH, Lee HA, Lee MO, Cho HS, Jung CR, Kim J, Cho S, Son MY, A SMN2 splicing modifier rescues the disease phenotypes in an in vitro human spinal muscular atrophy model Stem cells and development10:19892 2019 |
| PubMed ID: 30667343 |
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| Yang SJ, Lipnick SL, Makhortova NR, Venugopalan S, Fan M, Armstrong Z, Schlaeger TM, Deng L, Chung WK, O'Callaghan L, Geraschenko A, Whye D, Berndl M, Hazard J, Williams B, Narayanaswamy A, Ando DM, Nelson P, Rubin LL, Applying Deep Neural Network Analysis to High-Content Image-Based Assays SLAS discovery : advancing life sciences R & D24:829-841 2019 |
| PubMed ID: 31284814 |
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| Stabley DL, Holbrook J, Harris AW, Swoboda KJ, Crawford TO, Sol-Church K, Butchbach MER, Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR Neuromuscular disorders : NMD27:439-446 2016 |
| PubMed ID: 28284873 |
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| Stabley DL, Harris AW, Holbrook J, Chubbs NJ, Lozo KW, Crawford TO, Swoboda KJ, Funanage VL, Wang W, Mackenzie W, Scavina M, Sol-Church K, Butchbach ME, SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR Molecular genetics & genomic medicine3:248-57 2015 |
| PubMed ID: 26247043 |
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| Xu CC, Denton KR, Wang ZB, Zhang X, Li XJ, Abnormal mitochondrial transport and morphology as early pathological changes in human models of spinal muscular atrophy Disease models & mechanisms9:39-49 2015 |
| PubMed ID: 26586529 |
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| Avila AM, Burnett BG, Taye AA, Gabanella F, Knight MA, Hartenstein P, Cizman Z, Di Prospero NA, Pellizzoni L, Fischbeck KH, Sumner CJ, Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy The Journal of clinical investigation117:659-71 2006 |
| PubMed ID: 17318264 |
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| Wan L, Battle DJ, Yong J, Gubitz AK, Kolb SJ, Wang J, Dreyfuss G, The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy Molecular and cellular biology25:5543-51 2005 |
| PubMed ID: 15964810 |
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| DiDonato CJ, Parks RJ, Kothary R, Development of a gene therapy strategy for the restoration of survival motor neuron protein expression: implications for spinal muscular atrophy therapy. Hum Gene Ther14(2):179-88 2003 |
| PubMed ID: 12614569 |
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| Sumner CJ, Huynh TN, Markowitz JA, Perhac JS, Hill B, Coovert DD, Schussler K, Chen X, Jarecki J, Burghes AH, Taylor JP, and Fischbeck KH.
, Valproic acid increases SMN levels in spinal muscular atrophy patient cells.
Ann Neurol54:647-654 2003 |
| PubMed ID: 14595654 |
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| Gangwani L, Mikrut M, Theroux S, Sharma M, Davis RJ, Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein. Nat Cell Biol3(4):376-83 2001 |
| PubMed ID: 11283611 |
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| Oki J, Miyamoto A, Itoh J, Kusunoki Y, Cho K, [A longitudinal study of children with language delay at 3 years of age; later WPPSI and school attendance] No to hattatsu Brain and development24:3-8 1992 |
| PubMed ID: 1731826 |
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| Scudiero DA, Meyer SA, Clatterbuck BE, Tarone RE, Robbins JH, Hypersensitivity to N-methyl-N'-nitro-N-nitrosoguanidine in fibroblasts from patients with Huntington disease, familial dysautonomia, and other primary neuronal degenerations. Proc Natl Acad Sci U S A78:6451-5 1981 |
| PubMed ID: 6458814 |
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