Cellosaurus cell line SANi006-A (CVCL

Cross-references
Cell line name	SANi006-A
Synonyms	PE2S.GPS38.cl6; GPS clone 6
Accession	CVCL_A0JV
Resource Identification Initiative	To cite this cell line use: SANi006-A (RRID:CVCL_A0JV)
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:31928; NBEAL2; Simple; p.Cys2190Alafs*23 (c.6568delT); ClinVar=VCV000982280; Zygosity=Heterozygous (PubMed=34237592). Mutation; HGNC; HGNC:31928; NBEAL2; Simple; p.Leu2646Pro (c.7937T>C); ClinVar=VCV000982281; Zygosity=Heterozygous (PubMed=34237592).
Disease	Gray platelet syndrome (NCIt: C84741) Gray platelet syndrome (ORDO: Orphanet_721)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	50Y
Category	Induced pluripotent stem cell
Publications	PubMed=34237592; DOI=10.1016/j.scr.2021.102443 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 SANi006-A from a Gray platelet syndrome patient. Stem Cell Res. 55:102443-102443(2021)
Cell line databases/resources	hPSCreg; SANi006-A
Encyclopedic resources	Wikidata; Q108821260
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	6