ID   SDQLCHi005-A
AC   CVCL_XI48
DR   hPSCreg; SDQLCHi005-A
DR   Wikidata; Q98129452
RX   PubMed=31522012;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 6342; KIT; Simple; p.Asp816Val (c.2447A>T); ClinVar=VCV000013852; Zygosity=Heterozygous (PubMed=31522012).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C7137; Cutaneous mastocytosis
DI   ORDO; Orphanet_79457; Maculopapular cutaneous mastocytosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1D
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 6
//
RX   PubMed=31522012; DOI=10.1016/j.scr.2019.101565;
RA   Zhang H.-Y., Ma Y.-Y., Yan B.-B., Yang X.-M., Li Y., Guan J.-Y.,
RA   Dong R., Liu Y., Gai Z.-T.;
RT   "Establishment of a human induced pluripotent stem cell line
RT   (SDQLCHi005-A) from a patient with mastocytosis carrying heterozygous
RT   mutation in KIT gene.";
RL   Stem Cell Res. 40:101565-101565(2019).
//