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Cellosaurus SANi005-A (CVCL_QY84)

[Text version]

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 sampling site: Peripheral blood.
Sequence variations Mutation; 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
Hansen M., Varga E., Wust T., Mellink C., van der Kevie-Kersemaekers A.-M., Marneth A.E., von Lindern M., van der Reijden B., van den Akker E.
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)

Cross-references
Cell line databases/resources hPSCreg; SANi005-A
Encyclopedic resources Wikidata; Q54952096
Entry history
Entry creation05-Mar-2018
Last entry update16-Dec-2021
Version number7