Cellosaurus cell line SANi008-A (CVCL

Cross-references
Cell line name	SANi008-A
Synonyms	PE2S.LYST40.cl6; LYST clone 6
Accession	CVCL_A0JX
Resource Identification Initiative	To cite this cell line use: SANi008-A (RRID:CVCL_A0JX)
Comments	From: Sanquin; Amsterdam; Netherlands. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. Cell type: Erythroblast; CL=CL_0000765.
Sequence variations	Mutation; HGNC; HGNC:1968; LYST; Simple; p.Glu1441Valfs*11 (c.4322_4325delAGAG); ClinVar=VCV001173104; Zygosity=Heterozygous (PubMed=34224985). Mutation; HGNC; HGNC:1968; LYST; Simple; p.Asn3376Ser (c.10127A>G); ClinVar=VCV000065529; Zygosity=Heterozygous (PubMed=34224985).
Disease	Chediak-Higashi syndrome (NCIt: C2941) Chediak-Higashi syndrome (ORDO: Orphanet_167)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=34224985; DOI=10.1016/j.scr.2021.102442 Cathelijn E.M. Aarts, Eszter Varga, Steven Webbers, Judy Geissler, Marieke von Lindern, Taco W. Kuijpers, Emile van den Akker; Generation and characterization of a human iPSC line SANi008-A from a Chediak-Higashi syndrome patient. Stem Cell Res. 55:102442-102442(2021)
Cell line databases/resources	hPSCreg; SANi008-A
Encyclopedic resources	Wikidata; Q108821262
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	5