GM15879
LCL from B-Lymphocyte
Description:
ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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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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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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46,X,t(X;13)(Xpter>Xq13::13p11.2>13pter;13qter>13p11.2::Xq13>Xqter).ish t(X;13)(DXZ1+,D13Z1-;DXZ1-,D13Z1+)
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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 Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Cytogenetics |
Chromosome 13: TRANSLOCATION Breakpoint 13p11 t(X;13)13p11 |
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Chromosome X: TRANSLOCATION Breakpoint Xq13 t(X;13)Xq13 |
| Remarks |
Hypomelanosis of Ito; clinically affected; hypotrichosis; swirls of hypopigmented skin; anhydrosis; fine, silky hair; absent teeth and small pointed incisors; saddle-nose; variable mental retardation; short stature |
| dbSNP |
dbSNP ID: 14046 |
| NCBI GTR |
305100 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED |
| OMIM |
305100 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED |
| Omim Description |
CHRIST-SIEMENS-TOURAINE SYNDROME |
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CST SYNDROME |
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ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1 |
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ECTODERMAL DYSPLASIA, ANHIDROTIC; EDA |
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ECTODERMAL DYSPLASIA, HYPOHIDROTIC, X-LINKED; XHED; XLHEDECTODYSPLASIN-A; INCLUDED; EDA, INCLUDED |
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ECTODERMAL DYSPLASIA, HYPOHIDROTIC; HED |
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EDA1 |
| Split Ratio |
1:4 |
| 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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