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HighQC™ Human IPSC From Fibroblast-Long QT Syndrome 3

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Long QT Syndrome 3; LQT3 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 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.
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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 3
Species

Human
Cat.No

ABC-SC2054
Product Category Stem Cells
Size/Quantity

1 vial
Cell Type

Induced Pluripotent Stem Cell
Shipping Info

Dry Ice
Growth Conditions

37 ℃, 5% CO2
Source Organ

Fibroblast
Disease

Long QT Syndrome 3
Storage

Liquid Nitrogen
Product Type

Human iPSCs
Gene Info

Gene: SCN5A; Mutation: ASN406LYS

Description

Long QT Syndrome 3; LQT3
SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 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.

AcceGen Frozen Cells & Cell Lines 1 vial
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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).

Application

  • For research use only

Frequently Asked Questions

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

    Sequencing revealed a de novo missense mutation in exon 10 of the SCN5A gene (1218C>A), located at chromosomal region 3p22.2. The identified mutation is ASN406LYS (N406K), a novel pathogenic variant situated in the IS6 region of the transmembrane-spanning domain of the NaV1.5 cardiac sodium channel encoded by SCN5A.

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