GM25394

GM25394 LCL from B-Lymphocyte

Description:

CHOROIDEREMIA; CHM
CHM GENE; CHM

Affected:

Yes

Sex:

Male

Age:

26 YR (At Sampling)

Overview

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

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

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.