Description:
CHOROIDEREMIA; CHM
CHM GENE; CHM
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
PIGI Consented Sample |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Country of Origin
|
USA
|
|
Family History
|
Y
|
|
Relation to Proband
|
proband
|
|
Confirmation
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Molecular characterization before cell line submission to CCR
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|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
5.55 |
| 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.R253X; CHOROIDEREMIA |
| Identified Mutation |
ARG253TER |
| Remarks |
Clinically affected; direct sequencing of the coding region and adjacent splice sites of the CHM gene revealed a c.757C>T (R253X)nonsense mutation in exon 6 of the CHM; immunoblot analysis of protein derived from white blood cells confirmed the absence of Rab escort protein-1 (REP1)-the normal CHM gene product; family history includes: affected brother, maternal grandfather, and 2 maternal uncles (not in repository); donor subject is referred to as "living brother" in Survey of Ophthalmology 54 (3):401-407, 2009 - PMID 19422966. |
| MacDonald IM, Russell L, Chan CC, Choroideremia: new findings from ocular pathology and review of recent literature Survey of ophthalmology54:401-7 2009 |
| PubMed ID: 19422966 |
| Cumulative PDL at Freeze |
5.55 |
| 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 |
Gelatin |
| Supplement |
- |
|