GM25400
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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Transformant
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Untransformed
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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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2
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Family History
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Y
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Relation to Proband
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brother
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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 |
6.47 |
| Passage Frozen |
3 |
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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 |
p.R270X; CHOROIDEREMIA |
| Identified Mutation |
ARG270TER |
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| Gene |
CHM |
| Chromosomal Location |
Xq21.2 |
| Allelic Variant 1 |
non-disease causing; CHOROIDEREMIA |
| Identified Mutation |
ALA117ALA |
| Remarks |
Clinically affected; donor is hemizygous for a CGA>TGA ; R270X mutation in the CHM gene (EPP=3, probable disease causing mutation); donor is also hemizygous for a GCA>GCG; A117A polymorphism (EPP=0, very unlikely to be disease causing mutation) in the CHM gene; brother is also affected (GM25385-Lymph,GM25386-Fibro); see GM25399 for donor lymphoblast line. |
| Cumulative PDL at Freeze |
6.47 |
| Passage Frozen |
3 |
| Split Ratio |
1:2 |
| 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 |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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