GM25267
iPSC from Fibroblast
Description:
LONG QT SYNDROME 3; LQT3
SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| 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 (Retroviral)
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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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Ethnicity
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Hispanic/Latino
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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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N
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis and Molecular characterization
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ISCN
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46,XX[19]
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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 |
25 |
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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 |
SCN5A |
| Chromosomal Location |
3p22.2 |
| Allelic Variant 1 |
N406K; LONG QT SYNDROME 3; LQT3 |
| Identified Mutation |
ASN406LYS |
| 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. 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 iPS Academia Japan, Inc.. |
| 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 |
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| 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 |
| Passage Frozen |
25 |
| Split Ratio |
1:10 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none |
| Substrate |
Matrigel |
| Supplement |
- |
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