Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Protocols Protocol PDF
Cell Type Stem cell
Tissue Type Induced pluripotent stem cell
Transformant Reprogrammed (Episomal)
Race Caucasian
Country of Origin USA
Family Member 1
Family History N
Relation to Proband proband
Confirmation Biochemical characterization - other
ISCN 46,XY[25]
Species Homo sapiens
Common Name Human
Remarks Induced pluripotent stem cell derived from parental fibroblast GM01014; subject clinically affected; elevated sweat chloride; donor subject is homozygous for the deltaF508 deletion mutation (Phe508DEL); affected brother is GM01013; father is GM01708.
Passage Frozen 24
 
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.
 
Gene CFTR
Chromosomal Location 7q31.2
Allelic Variant 1 602421.0001; CYSTIC FIBROSIS
Identified Mutation PHE508DEL; Deletion of codon 508 (CTT) in exon 10 leads to deletion of phenylalanine-508 (delta-F508).
 
Gene CFTR
Chromosomal Location 7q31.2
Allelic Variant 2 602421.0001; CYSTIC FIBROSIS
Identified Mutation PHE508DEL; Deletion of codon 508 (CTT) in exon 10 leads to deletion of phenylalanine-508 (delta-F508).
Remark Induced pluripotent stem cell derived from parental fibroblast GM01014; subject clinically affected; elevated sweat chloride; donor subject is homozygous for the deltaF508 deletion mutation (Phe508DEL); affected brother is GM01013; father is GM01708.
No data is available
No data is available
Passage Frozen 24
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 Not inactivated
Substrate Gelatin + Feeder Layer
Supplement Basic Fibroblast Growth Factor 5ng/ml