GM27880
iPSC from Fibroblast
Description:
RETT SYNDROME, CONGENITAL VARIANT
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Gene-Edited hiPSC
Heritable Diseases
FOXG1 |
| Protocols |
Protocol PDF |
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Cell Type
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Stem cell
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Cell Subtype
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Induced pluripotent stem cell
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Transformant
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Reprogrammed (Retroviral)
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Sample Source
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iPSC from Fibroblast
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Race
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Unknown
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Country of Origin
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USA
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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ISCN
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46,XY[16]
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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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| Induced Pluripotent Stem Cell |
The frozen cell line submitted to the Repository was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis. |
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| Gene |
FOXG1 |
| Chromosomal Location |
14q12 |
| Allelic Variant 1 |
p.S19QfsX120; RETT SYNDROME, CONGENITAL VARIANT |
| Identified Mutation |
c.53_54insT (p.S19QfsX120) |
| |
| Gene |
FOXG1 |
| Chromosomal Location |
14q12 |
| Allelic Variant 2 |
p.S19QfsX120; RETT SYNDROME, CONGENITAL VARIANT |
| Identified Mutation |
c.53_54insT (p.S19QfsX120) |
| Remarks |
iPSC identifier: 1123-FOXG1-LOF-Hom#A8. Homozygous insertion of 1 base pair (bp) in the coding sequence region of the human FOXG1 gene by Cas9/gRNA mediated non-homologous end joining (NHEJ), generating a premature stop codon, generating a KO of the FOXG1 gene; genotype confirmed by Sanger sequencing; retroviruses used contained human Oct3/4, Sox2, Klf4, and c-Myc. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is iPS Academia, Japan Inc.. This line was gene-edited using CRISPR/Cas9 technology using a LULL agreement with The Broad Institute.
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| A Abyzov, L Tomasini, B Zhou, N Vasmatzis, G Coppola, M Amenduni, R Pattni, M Wilson, M Gerstein, S Weissman, AE Urban, FM Vaccarino, One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin Genome Res27 (4):512-523 2017 |
| PubMed ID: 28235832 |
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| J Mariani, G Coppola, P Zhang, A Abyzov, L Provini, L Tomasini, M Amenduni, A Szekely, D Palejev, M Wilson, M Gerstein, EL Grigorenko, K Chawarska, KA Pelphrey, JR Howe, FM Vaccarino, FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders Cell162:375-390 2015 |
| PubMed ID: 26186191 |
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| Abyzov A, Mariani J, Palejev D, Zhang Y, Haney MS, Tomasini L, Ferrandino AF, Rosenberg Belmaker LA, Szekely A, Wilson M, Kocabas A, Calixto NE, Grigorenko EL, Huttner A, Chawarska K, Weissman S, Urban AE, Gerstein M, Vaccarino FM, Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells Nature492 (7429):438-442 2012 |
| PubMed ID: 23160490 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none |
| Substrate |
Matrigel |
| Supplement |
- |
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