Cellosaurus cell line UiPS-2 (CVCL

Cross-references
Cell line name	UiPS-2
Accession	CVCL_UG43
Resource Identification Initiative	To cite this cell line use: UiPS-2 (RRID:CVCL_UG43)
Comments	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. Derived from site: In situ; Urine; UBERON=UBERON_0001088. Cell type: Epithelial cell of kidney; CL=CL_0002518.
Sequence variations	Mutation; HGNC; HGNC:10484; RYR2; Simple; p.Tyr2476Asp (c.7426T>G); Zygosity=Heterozygous (PubMed=30308486).
Disease	Catecholaminergic polymorphic ventricular tachycardia type 1 (NCIt: C123414) Catecholaminergic polymorphic ventricular tachycardia (ORDO: Orphanet_3286)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_UG42 ! UiPS-1
Sex of cell	Male
Age at sampling	2M
Category	Induced pluripotent stem cell
Publications	PubMed=30308486; DOI=10.1159/000494167 Yin-Yin Cao, Jin Xu, Jun-Xiang Wen, Xiao-Jing Ma, Fang Liu, Yang Li, Wei-Cheng Chen, Li-Qun Sun, Yao Wu, Shuo-Lin Li, Jian Li, Guo-Ying Huang; Generation of a urine-derived iPS cell line from a patient with a ventricular septal defect and heart failure and the robust differentiation of these cells to cardiomyocytes via small molecules. Cell. Physiol. Biochem. 50:538-551(2018)
Encyclopedic resources	Wikidata; Q98133891
Entry history
Entry creation	13-Nov-2018
Last entry update	19-Dec-2024
Version number	9