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 PIGI Consented Sample |
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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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Asian
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Chinese
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Country of Origin
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FRANCE
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|
Family Member
|
2
|
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Family History
|
N
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|
Relation to Proband
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mother
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Species
|
Homo sapiens
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Common Name
|
Human
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Remarks
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|
| PDL at Freeze |
7.35 |
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Unaffected mother (GM27251 LCL) of affected child (GM27246 fibroblast; GM27248 LCL). |
| Hettige NC, Peng H, Wu H, Zhang X, Yerko V, Zhang Y, Jefri M, Soubannier V, Maussion G, Alsuwaidi S, Ni A, Rocha C, Krishnan J, McCarty V, Antonyan L, Schuppert A, Turecki G, Fon EA, Durcan TM, Ernst C, FOXG1 dose tunes cell proliferation dynamics in human forebrain progenitor cells Stem cell reports17:475-488 2022 |
| PubMed ID: 35148845 |
| Cumulative PDL at Freeze |
7.35 |
| Passage Frozen |
3 |
| Split Ratio |
1:4 |
| 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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