Cellosaurus cell line SANi005-A (CVCL

Cross-references
Cell line name	SANi005-A
Synonyms	BEL20 cl.8; BEL20.cl8
Accession	CVCL_QY84
Resource Identification Initiative	To cite this cell line use: SANi005-A (RRID:CVCL_QY84)
Comments	From: Sanquin; Amsterdam; Netherlands. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:4238; GFI1B; Simple; p.Gln287Ter (c.859C>T); ClinVar=VCV000102428; Zygosity=Heterozygous (PubMed=29055225).
Disease	Bleeding disorder, platelet-type 17 (NCIt: C142084) Gray platelet syndrome (ORDO: Orphanet_721)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	79Y
Category	Induced pluripotent stem cell
Publications	PubMed=29055225; DOI=10.1016/j.scr.2017.10.008 Marten Hansen, Eszter Varga, Tatjana Wust, Clemens Mellink, Anne-Marie van der Kevie-Kersemaekers, Anne E. Marneth, Marieke von Lindern, Bert van der Reijden, Emile van den Akker; Generation and characterization of a human iPSC line SANi005-A containing the gray platelet associated heterozygous mutation p.Q287* in GFI1B. Stem Cell Res. 25:34-37(2017)
Cell line databases/resources	hPSCreg; SANi005-A
Encyclopedic resources	Wikidata; Q54952096
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	10