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GM23385 Fibroblast from Skin, Unspecified

Description:

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

Affected:

Yes

Sex:

Male

Age:

56 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
Biopsy Source Unspecified
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Unspecified
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; diagnosed by cardiac electrophysiologist; prolonged QT over 538 milliseconds;large deletion in the KCNH2 gene; medications include: Beta-blockers.

Characterizations

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PDL at Freeze 2.43
Passage Frozen 2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 

Phenotypic Data

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Remarks Clinically affected; diagnosed by cardiac electrophysiologist; prolonged QT over 538 milliseconds;large deletion in the KCNH2 gene; medications include: Beta-blockers.

Publications

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Kellogg G, Thorsson B, Cai Y, Wisotzkey R, Pollock A, Akana M, Fox R, Jansen M, Gudmundsson EF, Patel B, Chang C, Jaremko M, Puig O, Gudnason V, Emilsson V, Molecular screening of familial hypercholesterolemia in Icelanders Scandinavian journal of clinical and laboratory investigation:1-7 2020
PubMed ID: 32706999

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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Cumulative PDL at Freeze 4.83
Passage Frozen 2
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 3%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Supplement -
Pricing
Commercial/For-profit:
$373.00USD
Academic/Non-profit/Government:
$216.00USD
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