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 (Retroviral)
Race Caucasian
Hispanic Ethnicity Hispanic/Latino
Country of Origin USA
Family Member 1
Family History N
Relation to Proband proband
Confirmation Karyotypic analysis and Molecular characterization
ISCN 46,XX[25]
Species Homo sapiens
Common Name Human
Remarks Induced pluripotent stem cell derived from dermal skin fibroblasts (collected from the leg); subject is clinically affected; onset of symptoms since birth; deceased at 19 years of age; EKG test: QT prolongation, 523 ms; subject's FISH results at time of submission: 46 XX; comprehensive open reading frame and splice site analysis of protein-coding exons was conducted using polymerase chain reaction, denaturing high performance liquid chromatography, and DNA sequencing of genomic DNA from the subject; sequencing revealed a de novo missense mutation in exon 10 of the SCN5A gene: 1218C>A, N406K; this novel pathogenic variant is localized at IS6 in the transmembrane-spanning domain of the NaV1.5 cardiac sodium channel encoded by SCN5A. This iPSC line was submitted by Dr. Bruce R. Conklin (Gladstone Institute of Cardiovascular Disease, UCSF). Please note that this line shows some differentiation upon culturing. Please refer to the Certificate of Analysis.
Passage Frozen 25
 
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 SCN5A
Chromosomal Location 3p22.2
Allelic Variant 1 N406K; LONG QT SYNDROME 3; LQT3
Identified Mutation ASN406LYS
Remark Induced pluripotent stem cell derived from dermal skin fibroblasts (collected from the leg); subject is clinically affected; onset of symptoms since birth; deceased at 19 years of age; EKG test: QT prolongation, 523 ms; subject's FISH results at time of submission: 46 XX; comprehensive open reading frame and splice site analysis of protein-coding exons was conducted using polymerase chain reaction, denaturing high performance liquid chromatography, and DNA sequencing of genomic DNA from the subject; sequencing revealed a de novo missense mutation in exon 10 of the SCN5A gene: 1218C>A, N406K; this novel pathogenic variant is localized at IS6 in the transmembrane-spanning domain of the NaV1.5 cardiac sodium channel encoded by SCN5A. This iPSC line was submitted by Dr. Bruce R. Conklin (Gladstone Institute of Cardiovascular Disease, UCSF). Please note that this line shows some differentiation upon culturing. Please refer to the Certificate of Analysis.
Ma Z, Koo S, Finnegan MA, Loskill P, Huebsch N, Marks NC, Conklin BR, Grigoropoulos CP, Healy KE, Three-dimensional filamentous human diseased cardiac tissue model Biomaterials35:1367-77 2013
PubMed ID: 24268663
 
Tester DJ, Will ML, Haglund CM, Ackerman MJ, Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing Heart rhythm : the official journal of the Heart Rhythm Society2:507-17 2004
PubMed ID: 15840476
No data is available
Passage Frozen 25
Percent CO2 5%
Percent O2 AMBIENT
Medium mTeSR1
Serum 20% Knock-out Serum Replacement
Substrate Matrigel