Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
Protocols Protocol PDF
Biopsy Source Skin
Cell Type Stem cell
Tissue Type Induced pluripotent stem cell
Transformant Reprogrammed (Sendai)
Race Caucasian
Family Member 1
Relation to Proband proband
Confirmation Karyotypic analysis and Case history
ISCN 46,XX,del(17)(p13.1p13.3)[25].arr[hg19] 17p13.3p13.2(513-4,242,178)x1
Species Homo sapiens
Common Name Human
Remarks Clinically affected; typical facies (bitemporal hollowing, thin downturned upper lip, micrognathia, microcephaly, high arched palate); ventricular septal defect; cell line initially noted additional diagnosis of a translocated chromosome, as it was submitted with the following karyotype: 46,XX,-17,+der(17),t(7;17)(p22.3;p13.2)pat; upon further analysis of several passages with advanced cytogenomic techniques, it was confirmed the translocation was not present in the cell line and this diagnosis has been subsequently removed; see GM06097 (fibroblast).
Passage Frozen 14
 
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 Clinically affected; typical facies (bitemporal hollowing, thin downturned upper lip, micrognathia, microcephaly, high arched palate); ventricular septal defect; cell line initially noted additional diagnosis of a translocated chromosome, as it was submitted with the following karyotype: 46,XX,-17,+der(17),t(7;17)(p22.3;p13.2)pat; upon further analysis of several passages with advanced cytogenomic techniques, it was confirmed the translocation was not present in the cell line and this diagnosis has been subsequently removed; see GM06097 (fibroblast).
No data is available
No data is available
Passage Frozen 14
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
Substrate Gelatin + Feeder Layer
Supplement Basic Fibroblast Growth Factor 10 ng/ml