Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
PIGI Consented Sample
Quantity 50 µg
Quantitation Method Please see our FAQ
Biopsy Source Skin
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Race Caucasian
Country of Origin USA
Family Member 1
Family History Y
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
ISCN 46,XY[19].arr(1-22)x2,(X,Y)x1
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; lymphoblast is GM25392; stem cell line is GM26650.
PDL at Freeze 6.77
Passage Frozen 3
 
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
Remark 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; lymphoblast is GM25392; stem cell line is GM26650.
No data is available
No data is available
Cumulative PDL at Freeze 6.77
Passage Frozen 3
Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium