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GM27173 iPSC from Fibroblast

Description:

ISOGENIC CONTROL
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
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Gene-Edited hiPSC
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[18].arr(1-22,X)x2
Species Homo sapiens
Common Name Human
Remarks This line is the isogenic control for the patient-derived line GM25305; 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. 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.. This line was gene-edited using CRISPR/Cas9 technology using a LULL agreement with The Broad Institute.

Characterizations

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Passage Frozen 55
 
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.
 

Phenotypic Data

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Remarks This line is the isogenic control for the patient-derived line GM25305; 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. 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.. This line was gene-edited using CRISPR/Cas9 technology using a LULL agreement with The Broad Institute.

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 55
Split Ratio 4
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium mTeSR1
Serum 0% none
Substrate Matrigel
Supplement -
Pricing
International/Commercial/For-profit:
$1,789.00USD
U.S. Academic/Non-profit/Government:
$1,110.00USD
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How to Order
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