GM26036
Fibroblast from Skin, Arm
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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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Arm
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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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Country of Origin
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CANADA
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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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| PDL at Freeze |
5.94 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
CHM |
| Chromosomal Location |
Xq21.2 |
| Allelic Variant 1 |
ARG253TER; CHOROIDEREMIA |
| Identified Mutation |
c.757C>T |
| Remarks |
Clinically affected; onset of symptoms at 13 years; diagnosed at 35 years; diffuse chorioretinal atrophy with macular involvement; subject had noticed symptoms of vision loss around the age of 13-15 years when playing baseball, never could see well in dim light/at night as a child; noticed that he couldn’t see items on shelves when shopping around age ~45 and began struggling with walking places at age 49; fundus photos and FAF images showed small scattered pigmentary islands, OD: poor AF, OS: small AF island within; microperimeter: average threshold was OD: 4 degrees, OS: 2 degrees; 100% fixation stability in both eyes - good fixation and double ring target; vision – OD: 20/30, OS: 20/40; sequencing of the CHM gene revealed a hemizygous c.757C>T (R253X) mutation; medications/supplements: Combigan, Lumigan, omega-3, lutein, B6 and B12 vitamins. |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
Commercially-treated plastic |
| Supplement |
- |
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