GM28344
LCL from B-Lymphocyte
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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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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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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Spanish, Dutch
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Country of Origin
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NETHERLANDS
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Family Member
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2
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Family History
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N
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Relation to Proband
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mother
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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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| Remarks |
Fibroblast is GM28345; mother of affected child 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 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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