Cellosaurus cell line SDQLCHi005-A (CVCL

Cross-references
Cell line name	SDQLCHi005-A
Accession	CVCL_XI48
Resource Identification Initiative	To cite this cell line use: SDQLCHi005-A (RRID:CVCL_XI48)
Comments	From: Qilu Children's Hospital of Shandong University; Jinan; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6342; KIT; Simple; p.Asp816Val (c.2447A>T); ClinVar=VCV000013852; Zygosity=Heterozygous (PubMed=31522012).
Disease	Cutaneous mastocytosis (NCIt: C7137) Maculopapular cutaneous mastocytosis (ORDO: Orphanet_79457)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	1D
Category	Induced pluripotent stem cell
Publications	PubMed=31522012; DOI=10.1016/j.scr.2019.101565 Zhang H.-Y., Ma Y.-Y., Yan B.-B., Yang X.-M., Li Y., Guan J.-Y., Dong R., Liu Y., Gai Z.-T. Establishment of a human induced pluripotent stem cell line (SDQLCHi005-A) from a patient with mastocytosis carrying heterozygous mutation in KIT gene. Stem Cell Res. 40:101565-101565(2019)
Cell line databases/resources	hPSCreg; SDQLCHi005-A
Encyclopedic resources	Wikidata; Q98129452
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	7