GM25305
iPSC from Fibroblast
Description:
LONG QT SYNDROME 2; LQT2
POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2
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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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Asian
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Chinese
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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[25]
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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 |
35 |
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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 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. |
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| Gene |
KCNH2 |
| Chromosomal Location |
7q36.1 |
| Allelic Variant 1 |
missense; LONG QT SYNDROME 2; LQT2 |
| Identified Mutation |
ALA422THR; Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). |
| Remarks |
Induced pluripotent stem cell derived from dermal skin fibroblasts (collected from the leg); subject is clinically affected; EKG test: QT prolongation, 493 ms; 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 missense mutation in exon 6 of the KCNH2 (HERG) gene: 1264G>A, A422T; this novel pathogenic variant is localized at S1 in the transmembrane-spanning domain of the IKr potassium channel alpha subunit encoded by KCNH2; it is not known if parents had LQT mutation - parental samples were unavailable. This iPSC line was submitted by Dr. Bruce R. Conklin (Gladstone Institute of Cardiovascular Disease, UCSF); isogenic control line for this iPSC is GM27173. 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.. |
| Min S, Kim S, Sim WS, Choi YS, Joo H, Park JH, Lee SJ, Kim H, Lee MJ, Jeong I, Cui B, Jo SH, Kim JJ, Hong SB, Choi YJ, Ban K, Kim YG, Park JU, Lee HA, Park HJ, Cho SW, Versatile human cardiac tissues engineered with perfusable heart extracellular microenvironment for biomedical applications Nature communications15:2564 2024 |
| PubMed ID: 38519491 |
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| Perry MD, Ng CA, Mangala MM, Ng TYM, Hines AD, Liang W, Xu MJO, Hill AP, Vandenberg JI, Pharmacological activation of IKr in models of long QT Type 2 risks overcorrection of repolarization Cardiovascular research15:2564 2019 |
| PubMed ID: 31628797 |
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| Spencer CI, Baba S, Nakamura K, Hua EA, Sears MA, Fu CC, Zhang J, Balijepalli S, Tomoda K, Hayashi Y, Lizarraga P, Wojciak J, Scheinman MM, Aalto-Setälä K, Makielski JC, January CT, Healy KE, Kamp TJ, Yamanaka S, Conklin BR, Calcium transients closely reflect prolonged action potentials in iPSC models of inherited cardiac arrhythmia Stem cell reports3:269-81 2013 |
| PubMed ID: 25254341 |
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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 |
35 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Check Folder |
| Serum |
20% Knock-out Serum Replacement |
| Substrate |
Matrigel |
| Supplement |
- |
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