Description:
CHOROIDEREMIA; CHM
CHM GENE; CHM
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Repository
|
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
|
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
|
Epstein-Barr Virus
|
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Sample Source
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DNA from LCL
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Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
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Ethnicity
|
German/Scottish-English
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|
Country of Origin
|
USA
|
|
Family Member
|
1
|
|
Family History
|
Y
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
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
|
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 |
EX6_8del; CHOROIDEREMIA |
| Identified Mutation |
EX6_8del |
| Remarks |
Clinically affected; diagnosed at age 14; symptom onset age 10-12; CHM gene sequencing revealed: hemizygous deletion of exons 6, 7 and 8 of the CHM gene was detected; family history: mother is affected carrier (GM25496). |
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