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HighQC™ Human IPSC From Fibroblast-Long QT Syndrome 2

  • For research use only

Cat No.

ABC-SC2053
Product Type

Human iPSCs
Cell Type

Induced Pluripotent Stem Cell
Species

Human
Growth Conditions

37 ℃, 5% CO2
Source Organ

Fibroblast
Disease

Long QT Syndrome 2
Storage

Liquid Nitrogen

Cell Type: iPSC; Disease: Long QT Syndrome 2; LQT2 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2.

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  • HighQC™ Human IPSC From Fibroblast-Long QT Syndrome 2
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Home | Stem Cells | Induced Pluripotent Stem Cells (iPSCs) | Induced Pluripotent Stem Cells (iPSCs) | HighQC™ Human IPSC From Fibroblast-Long QT Syndrome 2

Description

Long QT Syndrome 2; LQT2
POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2; Subcollection: Heritable Diseases; Affected: YES; Cells are only guaranteed with purchase of AcceGen Media and AcceGen Extra Cellular Matrix for appropriate cell culture, for 30 days from the date of shipment.

Species

Human
Cat.No

ABC-SC2053
Product Category Stem Cells
Size/Quantity

1 vial
Cell Type

Induced Pluripotent Stem Cell
Growth Mode

Adherent
Shipping Info

Dry Ice
Growth Conditions

37 ℃, 5% CO2
Source Organ

Fibroblast
Disease

Long QT Syndrome 2
Storage

Liquid Nitrogen
Product Type

Human iPSCs
Gene Info

Gene: KCNH2; Mutation: ALA422THR

Application

  • For research use only

Citation

When you publish your research, please cite our product as "AcceGen Biotech Cat.# XXX-0000". In return, we’ll give you a $100 coupon. Simply click here and submit your paper’s PubMed ID (PMID).

Frequently Asked Questions

  • Are the mutations in this iPSC line heterozygous or homozygous, and what is the specific mutation information?

    Sequencing revealed a missense mutation in exon 6 of the KCNH2 (HERG) gene (1264G>A), located at chromosomal region 7q36.1. The identified mutation is ALA422THR, a novel pathogenic variant situated in the S1 region of the transmembrane-spanning domain of the IKr potassium channel α-subunit encoded by KCNH2.

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