ID   NIHTVBi028-A
AC   CVCL_C4RU
SY   HT605B
DR   BioSamples; SAMEA111353028
DR   hPSCreg; NIHTVBi028-A
DR   Wikidata; Q116049890
RX   PubMed=36215934;
CC   From: National Heart, Lung, and Blood Institute, National Institutes of Health; Bethesda; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6735; LYN; Simple; p.Tyr508Ter (c.1524C>G); ClinVar=VCV001895417; Zygosity=Homozygous (PubMed=36215934).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y10M
CA   Induced pluripotent stem cell
DT   Created: 15-12-22; Last updated: 29-06-23; Version: 3
//
RX   PubMed=36215934; DOI=10.1016/j.scr.2022.102933; PMCID=PMC9674432;
RA   Harper R., Yu Q., Liu Y.-T., Yang D., Zou J.-H., Beers J.K.,
RA   de Jesus Rasheed A.A., Goldbach-Mansky R.T., Boehm M., Chen G.-B.;
RT   "Human induced pluripotent stem cells generated from a patient with a
RT   homozygous mutation in the Lyn kinase gene.";
RL   Stem Cell Res. 64:102933-102933(2022).
//