Cellosaurus cell line SHEHi002-A (CVCL

Cross-references
Cell line name	SHEHi002-A
Synonyms	5426; iPS36
Accession	CVCL_YX74
Resource Identification Initiative	To cite this cell line use: SHEHi002-A (RRID:CVCL_YX74)
Comments	From: Shanghai East Hospital; Shanghai; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:1390; CACNA1C; Simple; p.Arg858His (c.2573G>A); ClinVar=VCV000190653; Zygosity=Heterozygous (PubMed=32062134).
Disease	Long QT syndrome 8 (NCIt: C142894) Timothy syndrome (ORDO: Orphanet_65283)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	10Y
Category	Induced pluripotent stem cell
Publications	PubMed=32062134; DOI=10.1016/j.scr.2020.101731 Zhou H.-M., Zhou X.-Q., Lu J.-Z., Jia W.-W., Kang J.-H. An induced pluripotent stem cell line (SHEHi002-A (5426)) from a patient of long QT syndrome type 8 with c.2573G>A mutation in the gene CACNA1C. Stem Cell Res. 43:101731-101731(2020)
Cell line databases/resources	hPSCreg; SHEHi002-A SKIP; SKIP005822
Biological sample resources	BioSamples; SAMEA6233350
Encyclopedic resources	Wikidata; Q98132507
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	7