ID   SANi008-A
AC   CVCL_A0JX
SY   PE2S.LYST40.cl6; LYST clone 6
DR   hPSCreg; SANi008-A
DR   Wikidata; Q108821262
RX   PubMed=34224985;
CC   From: Sanquin; Amsterdam; Netherlands.
CC   Sequence variation: Mutation; HGNC; 1968; LYST; Simple; p.Glu1441Valfs*11 (c.4322_4325delAGAG); ClinVar=VCV001173104; Zygosity=Heterozygous (PubMed=34224985).
CC   Sequence variation: Mutation; HGNC; 1968; LYST; Simple; p.Asn3376Ser (c.10127A>G); ClinVar=VCV000065529; Zygosity=Heterozygous (PubMed=34224985).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
CC   Cell type: Erythroblast; CL=CL_0000765.
DI   NCIt; C2941; Chediak-Higashi syndrome
DI   ORDO; Orphanet_167; Chediak-Higashi syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34224985; DOI=10.1016/j.scr.2021.102442;
RA   Aarts C.E.M., Varga E., Webbers S., Geissler J., von Lindern M.,
RA   Kuijpers T.W., van den Akker E.;
RT   "Generation and characterization of a human iPSC line SANi008-A from a
RT   Chediak-Higashi syndrome patient.";
RL   Stem Cell Res. 55:102442-102442(2021).
//