Description:
RETT SYNDROME, CONGENITAL VARIANT
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
FOXG1 |
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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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Race
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Unknown
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Country of Origin
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USA
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Family Member
|
1
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Family History
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N
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Relation to Proband
|
proband
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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 |
6.47 |
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Healthy Control; apparently healthy father of FOXG1 proband (not in repository); Cell line identifier: S1123-01 |
| 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 |
| |
| 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 |
| |
| 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 |
| Passage Frozen |
6 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
|