GM25965

GM25965 LCL from B-Lymphocyte

Description:

CHOROIDEREMIA; CHM
CHM GENE; CHM

Affected:

Yes

Sex:

Male

Age:

47 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

English

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; onset of symptoms at 35 years of age; diagnosed at 43 years of age; ophthalmology exam at 43 years of age: gradually progressive fuzzy vision in both eyes, seeing flashes when blinking under artificial light; Visual Acuity - dist (SC): OD 20/25-2+3, OS 20/40 ph NI; Spectacles - Manifest Refraction: OD: -0.75+0.50X30 20/20, OS: -0.25sph NI, both 20/25-2; Intraocular Pressure -applanation: OD: 16, OS: 14 at 355pm; visual field full to confrontation; motility: ortho, full versions, OU, full ductions; pupils OD: 4-3.5, OS: 4-3.5, no APD; normal slit lamp examination; posterior segment exam at 355pm- neo 2.5%, mydriacyl 1%: vitreous OD/OS clear; optic nerve: OD/OS flat, sharp, mild pallor; CD ratio: vertical:0.2; macula: OD/OS flat, RPE stippling no heme or exudates; vessels: OD/OS normal vessels; periphery: OD/OS pigment stippling and focal RPE atrophy and exposure of choroidal vessels, no holes or tears; OCT: OD central foveal thickness 256 um nl foveal contour, no SRF/IRF; OS central foveal thickness 232 um nl foveal contour, no SRF/IRF; DNA sequencing of all coding exons and exon/intron boundaries revealed a hemizygous frame-shift mutation in the CHM gene: c.941dupG; affected maternal grandfather (not in repository).