Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
PIGI Consented Sample
Protocols Protocol PDF
Biopsy Source Skin
Cell Type Stem cell
Tissue Type Induced pluripotent stem cell
Transformant Reprogrammed (Sendai)
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[24].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; induced pluripotent stem cell line derived from fibroblast GM25393; lymphoblast is GM25392.
Passage Frozen 16
 
Induced Pluripotent Stem Cell The frozen cell line submitted to the Repository was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis.
 
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; induced pluripotent stem cell line derived from fibroblast GM25393; lymphoblast is GM25392.
No data is available
No data is available
Passage Frozen 16
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Ham's F12 Medium/Dulbecco Modified Eagles Medium, 1:1 mixture with 2mM L-glutamine or equivalent
Serum 20% Knock-out Serum Replacement Not inactivated
Substrate Gelatin + Feeder Layer
Supplement Basic Fibroblast Growth Factor 10ng/ml