ID   CIRA00153-9
AC   CVCL_C4P0
DR   Wikidata; Q116048770
RX   PubMed=36259166;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1968; LYST; Simple; p.Ala40Glyfs*24 (c.118dupG) (c.118_119insG); ClinVar=VCV000003810; Zygosity=Heterozygous (PubMed=36259166).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C2941; Chediak-Higashi syndrome
DI   ORDO; Orphanet_167; Chediak-Higashi syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_CW70 ! GM02075
SX   Female
AG   1Y6M
CA   Induced pluripotent stem cell
DT   Created: 15-12-22; Last updated: 29-06-23; Version: 3
//
RX   PubMed=36259166; DOI=10.1111/ped.15390;
RA   Oh S., Niwa A., Nagahashi A., Asaka I., Nakahata T., Saito M.K.;
RT   "iPS cells from Chediak-Higashi syndrome patients recapitulate the
RT   giant granules in myeloid cells.";
RL   Pediatr. Int. 64:e15390.1-e15390.11(2022).
//