GM26650
iPSC from Fibroblast
Description:
CHOROIDEREMIA; CHM
CHM GENE; CHM
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
| Protocols |
Protocol PDF |
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Biopsy Source
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Skin
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Cell Type
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Stem cell
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Cell Subtype
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Induced pluripotent stem cell
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Transformant
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Reprogrammed (Sendai)
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Sample Source
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iPSC from Fibroblast
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Race
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White
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Country of Origin
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USA
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Family Member
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1
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Family History
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Y
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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ISCN
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46,XY[24].arr(1-22)x2,(X,Y)x1
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
16 |
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| 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. |
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| Gene |
CHM |
| Chromosomal Location |
Xq21.2 |
| Allelic Variant 1 |
; CHOROIDEREMIA |
| Identified Mutation |
c.189+1G>T |
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| Gene |
CHM |
| Chromosomal Location |
Xq21.2 |
| Allelic Variant 1 |
non-disease causing; CHOROIDEREMIA |
| Identified Mutation |
ALA117ALA |
| 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. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune. |
| 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 |
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