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GM25392 LCL from B-Lymphocyte

Description:

CHOROIDEREMIA; CHM
CHM GENE; CHM

Affected:

Yes

Sex:

Male

Age:

57 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links
  • Culture Protocols

Overview

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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
Country of Origin USA
Family Member 1
Family History Y
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; end stage choroideremia; deteriorated vision in both eyes; severe night blindness; sensitivity to light; decreased visual fields; some loss of color vision; blunt fundus in both eyes; diffuse retinal atrophy; mottled pigmentation; nuclear sclerotic cataract (NSC) 1+ in both eyes; at 56 years of age, eye exam readings for left eye were: MD -31.96 DB (p<0.5%), PSD 2.37 DB (p<2%) and for right eye: MD -32.28 DB (p<0.5%), PSD 1.49 DB; at 57 years of age, foveal thickness measured OD 357, OS 373 and sub-retinal fluid temporal to fovea OS is stable compared to a year earlier, for left eye: MD -32.45 DB (p<0.5%), PSD 1.56 DB and no information on right eye; VC: 20/50-2 PH 20/NI, 20/200+1 PH 20/NI; MR: OD -3.25+1.50x165 20/NI; OS -375+1.25x85 20/NI; W: -3.75+1.25x125, -3.75+1.25x85; DNA sequencing revealed a novel hemizygous G>T nucleotide substitution at position +1 of intron 3 in the CHM gene which may cause aberrant splicing of the mRNA and is a probable highly penetrant disease-causing sequence variant: c.189+1 G>T (formerly reported as IVS3+1 G>T), and a non-disease-causing variant Ala117Ala GCA>GCG; assistive devices: glasses, cane; fibroblast is GM25393; stem cell line is GM26650.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene CHM
Chromosomal Location Xq21.2
Allelic Variant 1 ; CHOROIDEREMIA
Identified Mutation c.189+1G>T
 
Gene CHM
Chromosomal Location Xq21.2
Allelic Variant 1 non-disease causing; CHOROIDEREMIA
Identified Mutation ALA117ALA

Phenotypic Data

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Remarks Clinically affected; end stage choroideremia; deteriorated vision in both eyes; severe night blindness; sensitivity to light; decreased visual fields; some loss of color vision; blunt fundus in both eyes; diffuse retinal atrophy; mottled pigmentation; nuclear sclerotic cataract (NSC) 1+ in both eyes; at 56 years of age, eye exam readings for left eye were: MD -31.96 DB (p<0.5%), PSD 2.37 DB (p<2%) and for right eye: MD -32.28 DB (p<0.5%), PSD 1.49 DB; at 57 years of age, foveal thickness measured OD 357, OS 373 and sub-retinal fluid temporal to fovea OS is stable compared to a year earlier, for left eye: MD -32.45 DB (p<0.5%), PSD 1.56 DB and no information on right eye; VC: 20/50-2 PH 20/NI, 20/200+1 PH 20/NI; MR: OD -3.25+1.50x165 20/NI; OS -375+1.25x85 20/NI; W: -3.75+1.25x125, -3.75+1.25x85; DNA sequencing revealed a novel hemizygous G>T nucleotide substitution at position +1 of intron 3 in the CHM gene which may cause aberrant splicing of the mRNA and is a probable highly penetrant disease-causing sequence variant: c.189+1 G>T (formerly reported as IVS3+1 G>T), and a non-disease-causing variant Ala117Ala GCA>GCG; assistive devices: glasses, cane; fibroblast is GM25393; stem cell line is GM26650.

External Links

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Gene Cards CHM
Gene Ontology GO:0004663 RAB-protein geranylgeranyltransferase activity
GO:0005084 Rab escort protein activity
GO:0005096 GTPase activator activity
GO:0005968 Rab-protein geranylgeranyltransferase complex
GO:0006886 intracellular protein transport
GO:0007601 visual perception
GO:0018348 protein amino acid geranylgeranylation
GO:0043087 regulation of GTPase activity
NCBI Gene Gene ID:1121
NCBI GTR 300390 CHM GENE; CHM
303100 CHOROIDEREMIA; CHM
OMIM 300390 CHM GENE; CHM
303100 CHOROIDEREMIA; CHM
Omim Description CHOROIDEREMIA; CHM
  GGTA, INCLUDED
  RAB ESCORT PROTEIN 1, INCLUDED; REP1, INCLUDED
  RAB GERANYLGERANYLTRANSFERASE, COMPONENT A, INCLUDED
  RAB GG TRANSFERASE, INCLUDED
  TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE; TCDCHOROIDAL SCLEROSIS, INCLUDED

Culture Protocols

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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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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