ID   UMGi158-B
AC   CVCL_E4JF
SY   CasQ2-CTRL; CASQ2-Ctrl1.1-K50
DR   hPSCreg; UMGi158-B
RX   PubMed=39378715;
CC   From: University Medical Center Goettingen; Goettingen; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1513; CASQ2; Simple_edited; p.Phe189Leu (c.567C>G); ClinVar=VCV000162814; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=39378715).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C148368; Catecholaminergic polymorphic ventricular tachycardia type 2
DI   ORDO; Orphanet_3286; Catecholaminergic polymorphic ventricular tachycardia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_C0GM ! UMGi158-A
SX   Female
AG   25Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=39378715; DOI=10.1016/j.scr.2024.103538;
RA   Syed Ali, Gideon
RA   Rebs, Sabine
RA   Eberl, Hanna
RA   Zinke, Clarissa
RA   Hubscher, Daniela
RA   Maurer, Wiebke
RA   Busley, Alexandra Viktoria
RA   Cyganek, Lukas
RA   Streckfuss-Bomeke, Katrin
RT   "Generation of a heterozygous calsequestrin 2 F189L iPSC line
RT   (UMGi158-B) by CRISPR/Cas9 genome editing to investigate the cardiac
RT   pathophysiology of Takotsubo syndrome and catecholaminergic
RT   polymorphic ventricular tachycardia.";
RL   Stem Cell Res. 81:103538-103538(2024).
//