ID   SCVIi104-A
AC   CVCL_D6LL
SY   SCVIi2996
DR   BioSamples; SAMEA115130031
DR   hPSCreg; SCVIi104-A
DR   Wikidata; Q127384231
RX   PubMed=39133963;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: East Asian.
CC   Sequence variation: Mutation; HGNC; HGNC:11998; TP53; Simple; p.Arg248Gln (c.743G>A); ClinVar=VCV000012356; Zygosity=Heterozygous (PubMed=39133963).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3476; Li-Fraumeni syndrome
DI   ORDO; Orphanet_524; Li-Fraumeni syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   40Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
//
RX   PubMed=39133963; DOI=10.1016/j.scr.2024.103527;
RA   Sun J.-Y., Ren L., Rivero G.C., Xu L.-Y., Ladabaum U., Wu J.C.;
RT   "Generation of two induced pluripotent stem cell lines from patients
RT   with Li-Fraumeni syndrome carrying TP53 mutation.";
RL   Stem Cell Res. 81:103527-103527(2024).
//