ID   UKKi007-B
AC   CVCL_9S36
SY   NP0014-5; CPVT-iPSC-c5
DR   BioSamples; SAMEA2698638
DR   EBiSC; UKKi007-B
DR   ECACC; 66540013
DR   hPSCreg; UKKi007-B
DR   SKIP; SKIP001410
DR   SKIP; SKIP002465
DR   Wikidata; Q54990423
RX   PubMed=22178870;
CC   From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; 10484; RYR2; Simple; p.Phe2483Ile (c.7447T>A); Zygosity=Heterozygous (PubMed=22178870).
CC   Discontinued: ECACC; 66540013; true.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C123414; Catecholaminergic polymorphic ventricular tachycardia type 1
DI   ORDO; Orphanet_3286; Catecholaminergic polymorphic ventricular tachycardia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_2Z94 ! UKKi007-A
SX   Female
AG   46Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 30-01-24; Version: 13
//
RX   PubMed=22178870; DOI=10.1159/000335753;
RA   Fatima A., Xu G.-X., Shao K.-F., Papadopoulos S., Lehmann M.,
RA   Arnaiz-Cot J.J., Rosa A.O., Nguemo F., Matzkies M., Dittmann S.,
RA   Stone S.L., Linke M., Zechner U., Beyer V., Hennies H.C.,
RA   Rosenkranz S., Klauke B., Parwani A.S., Haverkamp W., Pfitzer G.,
RA   Farr M., Cleemann L., Morad M., Milting H., Hescheler J., Saric T.;
RT   "In vitro modeling of ryanodine receptor 2 dysfunction using human
RT   induced pluripotent stem cells.";
RL   Cell. Physiol. Biochem. 28:579-592(2011).
//