GM25386
Fibroblast from Skin, Skin
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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Skin
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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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Sample Source
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Fibroblast from Skin, Skin
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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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German/English
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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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| PDL at Freeze |
6.03 |
| Passage Frozen |
3 |
| |
| 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); lymphoblast is GM25385. |
| Sarkar H, Mitsios A, Smart M, Skinner J, Welch A, Kalatzis V, Coffey P, Dubis AM, Webster A, Moosajee M, Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics Human molecular genetics: 2019 |
| PubMed ID: 30689859 |
| Cumulative PDL at Freeze |
6.03 |
| Passage Frozen |
3 |
| 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 |
| Supplement |
- |
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