GM04603
Fibroblast from Skin, Unspecified
Description:
DYSTROPHIA MYOTONICA 1; DM1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies |
| Class |
Disorders with Trinucleotide Expansions |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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Race
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White
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Family Member
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4
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Relation to Proband
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spouse
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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 |
5 |
| Passage Frozen |
8 |
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| Remarks |
Clinically unaffected; father of two affected daughters (GM04601, GM04602); affected spouse is GM04608; see GM04604 lymphocyte |
| Llach Pou M, Thiberge C, Van der Zwan M, Devi Govindan A, Pons S, Maskos U, Cloëz-Tayarani I, Developmental Changes of Human Neural Progenitor Cells Grafted into the Ventricular System and Prefrontal Cortex of Mouse Brain in Utero Cells12: 2023 |
| PubMed ID: 37048140 |
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| Neault N, O'Reilly S, Baig AT, Plaza-Diaz J, Azimi M, Farooq F, Baird SD, MacKenzie A, High-throughput kinome-RNAi screen identifies protein kinase R activator (PACT) as a novel genetic modifier of CUG foci integrity in myotonic dystrophy type 1 (DM1) PloS one16:e0256276 2020 |
| PubMed ID: 34520479 |
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| Ruillier V, Tournois J, Boissart C, Lasbareilles M, Mahé G, Chatrousse L, Cailleret M, Peschanski M, Benchoua A, Rescuing compounds for Lesch-Nyhan disease identified using stem cell-based phenotypic screening JCI insight16:e0256276 2020 |
| PubMed ID: 31990683 |
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| Vitrac A, Pons S, Balkota M, Lemière N, Raïs C, Bourgeois JP, Maskos U, Bourgeron T, Cloëz-Tayarani I, A chimeric mouse model to study human iPSC-derived neurons: the case of a truncating SHANK3 mutation Scientific reports10:13315 2020 |
| PubMed ID: 32769989 |
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| Barrault L, Gide J, Qing T, Lesueur L, Tost J, Denis JA, Cailleret M, Aubry L, Peschanski M, Martinat C, Baghdoyan S, Expression of miRNAs from the Imprinted Cells8:13315 2019 |
| PubMed ID: 31779280 |
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| Zarouchlioti C, Sanchez-Pintado B, Hafford Tear NJ, Klein P, Liskova P, Dulla K, Semo M, Vugler AA, Muthusamy K, Dudakova L, Levis HJ, Skalicka P, Hysi P, Cheetham ME, Tuft SJ, Adamson P, Hardcastle AJ, Davidson AE, Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity American journal of human genetics102:528-539 2018 |
| PubMed ID: 29526280 |
| NCBI GTR |
160900 MYOTONIC DYSTROPHY 1; DM1 |
| OMIM |
160900 MYOTONIC DYSTROPHY 1; DM1 |
| Omim Description |
DM PROTEIN KINASE, INCLUDED |
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DYSTROPHIA MYOTONICA; DM |
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DYSTROPHIA MYOTONICA; DMPK |
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MYOTONIC DYSTROPHY |
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MYOTONIC DYSTROPHY PROTEIN KINASE, INCLUDED; MDPK, INCLUDED |
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MYOTONIN-PROTEIN KINASE, INCLUDED |
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STEINERT DISEASEDM-KINASE, INCLUDED; DMK, INCLUDED |
| Passage Frozen |
8 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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