ID   UiPS-2
AC   CVCL_UG43
DR   Wikidata; Q98133891
RX   PubMed=30308486;
CC   Sequence variation: Mutation; HGNC; 10484; RYR2; Simple; p.Tyr2476Asp (c.7426T>G); Zygosity=Heterozygous (PubMed=30308486).
CC   Caution: The mutation indicated in the paper (c.7448T>G; p.L2483R) is incorrect and does not correspond to the sequence trace in Figure 2, we have therefore corrected it.
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
CC   Cell type: Epithelial cell of kidney; CL=CL_0002518.
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_UG42 ! UiPS-1
SX   Male
AG   2M
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 10-09-24; Version: 8
//
RX   PubMed=30308486; DOI=10.1159/000494167;
RA   Cao Y.-Y., Xu J., Wen J.-X., Ma X.-J., Liu F., Li Y., Chen W.-C.,
RA   Sun L.-Q., Wu Y., Li S.-L., Li J., Huang G.-Y.;
RT   "Generation of a urine-derived iPS cell line from a patient with a
RT   ventricular septal defect and heart failure and the robust
RT   differentiation of these cells to cardiomyocytes via small
RT   molecules.";
RL   Cell. Physiol. Biochem. 50:538-551(2018).
//