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Cellosaurus SDQLCHi005-A (CVCL_XI48)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi005-A
Encyclopedic resources Wikidata; Q98129452
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number6