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 |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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Race
|
White
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|
Ethnicity
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Not Hispanic/Latino
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Ethnicity
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German/English
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Country of Origin
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USA
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Family Member
|
1
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|
Family History
|
N
|
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Relation to Proband
|
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 |
| |
| Gene |
CHM |
| Chromosomal Location |
Xq21.2 |
| Allelic Variant 1 |
p.R270X; CHOROIDEREMIA |
| Identified Mutation |
ARG270TER |
| Remarks |
Clinically affected; onset of symptoms at 14 years of age; diagnosed at 61 years of age; DNA sequencing through exons 5 and 6 of the CHM gene using genomic DNA from the subject's white blood cells revealed a hemizygous, probable highly-penetrant disease-causing variant: Arg270Stop CGA>TGA and a hemizygous non-disease-causing variant Ala117Ala GCA>GCG; family history: subject has one brother affected with choroideremia (GM25399-lymph,GM25400-fibro) and one brother unaffected by the disease (not in repository); fibroblast is GM25386. |
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