GM24592
LCL from B-Lymphocyte
Description:
TURNER SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
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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Hispanic/Latino
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Ethnicity
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ECUADORIAN
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Country of Origin
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USA
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis before cell line submission to CCR
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ISCN
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45,X.arr[hg19] Xp22.33q28(168464-155233846)x1,1p31.1p22.2(77484392-90551764)x2 hmz,11q22.1q22.3(97895688-104524650)x2 hmz
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Clinically affected; mild ptosis; high arched palate; irregular dentition; low hairline; minimally webbed neck; low set ears; prominent auricles; shield chest with widely spaced, hypoplastic nipples; cubitus valgus; short 4th metacarpal bones; nail dysplasia; multiple pigmented nevi; history of recurrent upper respiratory infections, abdominal pain, and diarrhea; delayed puberty (Tanner I-
II pubic hair, Tanner 1-breasts, no axillary hair); ovarian failure; severe short stature (125.1 cm at 14.5 years, -5 standard deviations on normal growth curve and 5-10th percentile on TS growth curve); treatments: 3 months of Genotropin at 8 years of age; wears glasses.
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| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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