GM28361
Fibroblast from Skin, Back
Description:
WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR
ZC4H2 ASSOCIATED RARE DISORDERS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Biopsy Source
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Back
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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, Back
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Dutch, Spanish
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Country of Origin
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U.A.E.
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Family Member
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4
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Family History
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N
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Relation to Proband
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sister
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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 |
5.35 |
| Passage Frozen |
2 |
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| Remarks |
LCL is GM28360; sister of affected sibling GM28362 (LCL), GM28363 (fibroblast), and GM28603 (iPSC). WRWFFR (OMIM #301041) is referred as ZC4H2 Associated Rare Disorders by the ZC4H2 Research Foundation. |
| Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH, Hunt D, Mendelsohn BA, Kordaß U, Webster R, Sinnema M, Abdul-Rahman O, Suckow V, Fernández-Jaén A, van Roozendaal K, Stevens SJC, Macville MVE, Al-Nasiry S, van Gassen K, Utzig N, Koudijs SM, McGregor L, Maas SM, Baralle D, Dixit A, Wieacker P, Lee M, Lee AS, Engle EC, Houge G, Gradek GA, Douglas AGL, Longman C, Joss S, Velasco D, Hennekam RC, Hirata H, Kalscheuer VM, Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita Human mutation40:2270-2285 2019 |
| PubMed ID: 31206972 |
| Cumulative PDL at Freeze |
5.35 |
| Passage Frozen |
2 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| 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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