ID   ZNHi001-A
AC   CVCL_A7KT
SY   ZNHi001-Pr-A
DR   Wikidata; Q107117578
RX   PubMed=33780728;
CC   From: Zhongnan Hospital of Wuhan University; Wuhan; China.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; HGNC:16627; CHEK2; Simple; p.Arg180Cys (c.538C>T) (p.Arg223Cys, c.667C>T); ClinVar=VCV000128081; Zygosity=Heterozygous (PubMed=33780728).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C176588; CHEK2-associated Li-Fraumeni syndrome
DI   NCIt; C4863; Prostate carcinoma
DI   ORDO; Orphanet_1331; Familial prostate cancer
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A7KU ! ZNHi001-B
SX   Male
AG   63Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=33780728; DOI=10.1016/j.scr.2021.102299;
RA   Liu R., Qian K.-Y., Xiao Y., Jiang W.;
RT   "Generation of two induced pluripotent stem cell lines from blood
RT   cells of a prostate cancer patient carrying germline mutation in
RT   CHEK2.";
RL   Stem Cell Res. 53:102299-102299(2021).
//