ID   UKKi007-A
AC   CVCL_2Z94
SY   NP0014-6; NP0014; iPs CPVT1; CPVT-iPSC-c6
DR   BioSamples; SAMEA2629464
DR   EBiSC; UKKi007-A
DR   ECACC; 66540001
DR   hPSCreg; UKKi007-A
DR   SKIP; SKIP001411
DR   SKIP; SKIP002459
DR   Wikidata; Q54990422
DR   Ximbio; 153331
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; 66540001; true.
CC   Discontinued: Ximbio; 153331; probable.
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_9S36 ! UKKi007-B
SX   Female
AG   46Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-15; Last updated: 30-01-24; Version: 15
//
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).
//