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Cellosaurus SJTUi001-A (CVCL_YR17)

[Text version]
Cell line name SJTUi001-A
Accession CVCL_YR17
Resource Identification Initiative To cite this cell line use: SJTUi001-A (RRID:CVCL_YR17)
Comments From: Shanghai Jiao Tong University School of Medicine; Shanghai; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 8980; PIK3R2; Simple; p.Arg89Cys (c.265C>T); ClinVar=VCV001534490; Zygosity=Heterozygous (PubMed=32155459).
Disease Seizure disorder (NCIt: C3020)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 48Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=32155459

Markers:
AmelogeninX
CSF1PO10,12
D5S81810
D7S82012
D13S3179,12
D16S5399
D21S1129,33.2
TH017,9.3
TPOX8,10
vWA14

Run an STR similarity search on this cell line
Publications

PubMed=32155459; DOI=10.1016/j.scr.2020.101711
Zhang B., Wang Y.-S., Peng J., Hao Y., Guan Y.-T.
Generation of a human induced pluripotent stem cell line from an epilepsy patient carrying mutations in the PIK3R2 gene.
Stem Cell Res. 44:101711-101711(2020)

Cross-references
Cell line databases/resources hPSCreg; SJTUi001-A
SKIP; SKIP005618
Encyclopedic resources Wikidata; Q98132640
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number8