Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Protocols Protocol PDF
Biopsy Source Skin
Cell Type Stem cell
Tissue Type Induced pluripotent stem cell
Transformant Reprogrammed (Sendai)
Race Caucasian
Ethnicity JEWISH
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XY[23].arr[hg19] 5q33.3(156,191,213-157,347,263)x3
Species Homo sapiens
Common Name Human
Remarks External ophthalmoplegia with retinal degeneration, ptosis, myocardial fibrosis with congestive heart failure, muscle weakness, diabetes, and absence of sweat; parents have normal ERGs and EKGs; same subject as GM06224 (LCL) and GM06225 (fibroblast).
Passage Frozen 13
 
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 and PluriTest. 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.
 
Remark External ophthalmoplegia with retinal degeneration, ptosis, myocardial fibrosis with congestive heart failure, muscle weakness, diabetes, and absence of sweat; parents have normal ERGs and EKGs; same subject as GM06224 (LCL) and GM06225 (fibroblast).
No data is available
No data is available
Passage Frozen 13
Split Ratio 1:6
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
Substrate Gelatin + Feeder Layer
Supplement Basic Fibroblast Growth Factor 10 ng/ml