GM25382
LCL from B-Lymphocyte
Description:
CHOROIDEREMIA; CHM
CHM GENE; CHM
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases PIGI Consented Sample |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Ethnicity
|
European
|
Country of Origin
|
USA
|
Family Member
|
1
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
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 |
|
Gene |
CHM |
Chromosomal Location |
Xq21.2 |
Allelic Variant 1 |
; CHOROIDEREMIA |
Identified Mutation |
c.116+215insCCTTT |
|
Gene |
CHM |
Chromosomal Location |
Xq21.2 |
Allelic Variant 1 |
; CHOROIDEREMIA |
Identified Mutation |
c.116+80C>T |
Remarks |
Clinically affected; adopted at birth; diagnosed at 13 years of age; onset of symptoms at 10 years of age; pigment mottling characteristic of choroideremia; decreased field of vision; abnormal ERG exam; at 12 years of age, an eye exam revealed the following: MO -13.64 DB (p<0.5), PSO 9.93 DB (p<0.5) for the left eye and MO -15.63 DB (p<0.5), PSO 10.90 DB (p<0.5) for the right eye; at 14 years, the visual acuity was OD #letters 79, Snellen 20/32 and OS #letters 84, Snellen 20/20 while the manifest retraction was OD -1.00 Sph=#Let 89=20/16, OS -1.00+0.25X100=#Let 91=20/16 and the retina for both eyes had RPE hypo/hyper pigmentation, RPE mottling, left eye average RPE thickness was 292 um and that for the right eye was 291 um; PCR sequence analysis revealed a causative hemizygous mutation in exon 6 of the CHM gene (Xq21.2): c.808C>T (p.Arg270TER); sequencing also revealed hemizygous polymorphisms in intron 2 of the CHM gene: c.116+215insCCTTT (rs3078127) and c.116+80CC>T (rs1015148); supplements taken: omega 3, fish oil and lutein; same subject as GM25383 (fibroblast) and GM26663 (stem cell). |
Split Ratio |
1:5 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
|
|