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Cellosaurus SHEHi002-A (CVCL_YX74)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; SHEHi002-A
SKIP; SKIP005822
Biological sample resources BioSamples; SAMEA6233350
Encyclopedic resources Wikidata; Q98132507
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number6