GM25422
LCL from B-Lymphocyte
Description:
CHOROIDEREMIA; CHM
CHM GENE; CHM
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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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Italian/German
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Country of Origin
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USA
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Family Member
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1
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Family History
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Y
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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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| Gene |
CHM |
| Chromosomal Location |
Xq21.2 |
| Allelic Variant 1 |
2-BP DEL; CHOROIDEREMIA |
| Identified Mutation |
Thr175 del2acAG |
| |
| Gene |
CHM |
| Chromosomal Location |
Xq21.2 |
| Allelic Variant 1 |
non-disease causing; CHOROIDEREMIA |
| Identified Mutation |
ALA117ALA |
| Remarks |
Clinically affected; diagnosed at age 27; onset of symptoms at age 25; automated sequencing of the CHM gene revealed a hemizygous 2 base pair deletion of AG starting at codon 175 present in the coding sequence of the CHM gene (Thr175del2acAG, EPP=3), and a hemizygous , non-disease causing variation (Ala117Ala GCA>GCG, EPP=0); fibroblast is GM25423. |
| 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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