GM10393
LCL from B-Lymphocyte
Description:
TRANSLOCATED CHROMOSOME
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities dbGaP |
Biopsy Source
|
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
|
Transformant
|
Epstein-Barr Virus
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Sample Source
|
LCL from B-Lymphocyte
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Race
|
White
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Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
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Clinical summary/Case history
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ISCN
|
46,XY,der(7)t(X;7)(p21.3;p22).ish der(7)t(X;7)(p21.3;p22)(STS+,wcpX+,D7S589+).arr Xp22.33p21.1(320107-34423083)x2,7p22.3(174345-886181)x1
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Species
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Homo sapiens
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Common Name
|
Human
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Remarks
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|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
|
Cytogenetics |
Chromosome 7: DERIVATIVE CHROMOSOME Aneuploid Segment (-)7pter>7p22 |
|
Chromosome X: DERIVATIVE CHROMOSOME Aneuploid Segment (+)Xpter>Xp21 |
Remarks |
Diagnosed as pseudohermaphrodite at birth; denovo; phenotypic female with vaginal stenosis which was repaired and recontructed; karyotype is male; parents karyotypes are normal; exploratory operation of genitalia showed true hermaphroditism; retarded development; now lives in group home; older sibling died of La Flora disease at 20 years of age |
Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
PubMed ID: 23665875 |
Split Ratio |
1:2 |
Temperature |
37 C |
Percent CO2 |
5% |
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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