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GM25305 iPSC from Fibroblast

Description:

LONG QT SYNDROME 2; LQT2
POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2

Affected:

Yes

Sex:

Female

Age:

48 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Protocols Protocol PDF
Biopsy Source Skin
Cell Type Stem cell
Cell Subtype Induced pluripotent stem cell
Transformant Reprogrammed (Retroviral)
Sample Source iPSC from Fibroblast
Race Asian
Ethnicity Not Hispanic/Latino
Ethnicity Chinese
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; 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..

Characterizations

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Passage Frozen 35
 
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 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).

Phenotypic Data

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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..

Publications

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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 2023
PubMed ID: 38519491
 
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
 
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
 
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

External Links

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Gene Cards KCNH2
Gene Ontology GO:0000155 two-component sensor molecule activity
GO:0000160 two-component signal transduction system (phosphorelay)
GO:0005251 delayed rectifier potassium channel activity
GO:0005624 membrane fraction
GO:0006812 cation transport
GO:0006813 potassium ion transport
GO:0006936 muscle contraction
GO:0007605 perception of sound
GO:0008016 regulation of heart rate
GO:0008076 voltage-gated potassium channel complex
GO:0016021 integral to membrane
NCBI Gene Gene ID:3757
NCBI GTR 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2
613688 LONG QT SYNDROME 2; LQT2
OMIM 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2
613688 LONG QT SYNDROME 2; LQT2

Culture Protocols

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Passage Frozen 35
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Check Folder
Serum 20% Knock-out Serum Replacement
Substrate Matrigel
Supplement -
Pricing
International/Commercial/For-profit:
$1,789.00USD
U.S. Academic/Non-profit/Government:
$1,110.00USD
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