ID   CHD-26
AC   CVCL_ZW18
SY   iPSC.1
DR   Wikidata; Q102113674
RX   PubMed=32619719;
CC   From: National Human Genome Research Institute; Bethesda; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:1968; LYST; Simple; p.Arg503Ter (c.1507C>T); ClinVar=VCV000620096; Zygosity=Heterozygous (PubMed=32619719).
CC   Sequence variation: Mutation; HGNC; HGNC:1968; LYST; Simple; p.Gly3309Ser (c.9925G>A); Zygosity=Heterozygous (PubMed=32619719).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2941; Chediak-Higashi syndrome
DI   ORDO; Orphanet_167; Chediak-Higashi syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   27Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 6
//
RX   PubMed=32619719; DOI=10.1016/j.scr.2020.101883;
RA   Serra-Vinardell J., Sandler M.B., Pak E., Zheng W., Dutra A.,
RA   Introne W., Gahl W.A., Malicdan M.C.V.;
RT   "Generation and characterization of four Chediak-Higashi syndrome
RT   (CHS) induced pluripotent stem cell (iPSC) lines.";
RL   Stem Cell Res. 47:101883-101883(2020).
//