GM25394
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
|
Irish
|
Country of Origin
|
USA
|
Family History
|
Y
|
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 |
R239X; CHOROIDEREMIA |
Identified Mutation |
c.887 C>T |
|
Gene |
CHM |
Chromosomal Location |
Xq21.2 |
Allelic Variant 1 |
; CHOROIDEREMIA |
Identified Mutation |
295 A>T |
Remarks |
Clinically affected; symptom onset at 4 years of age; diagnosed at age 8 years; at 20 years of age, subject reported declining vision in right eye; examination revealed the following results: visual acuity (OD:4/200 with eccentric fixation, OS:20/30, read J5), pressures with tonopen (OD:18 mm Hg, OS:18 mm Hg), slit lamp examination (OU:within normal limits), fundus findings (OU: Heavy loss of retinal pigment epithelium and choriocapillaris in both eyes); legally blind with visual fields of less than 5 degrees with the 3mm (III-4-e) test object in both eyes; genetic testing revealed hemizygous mutation in exon 7 of the CHM gene: c.877 C>T, p.Arg293Stop (R293X); subject also hemizygous for a suspected rare polymorphism in exon 4 of the CHM gene (295A>T); medications/supplements: antioxidant vitamins; assistive device: white cane. |
Split Ratio |
1:4 |
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 |
- |
|
|