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Cellosaurus SANi006-A (CVCL_A0JV)

[Text version]

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 sampling site: Peripheral blood. Cell type=Erythroblast.
Sequence variations
  • Mutation; HGNC; 31928; NBEAL2; Simple; p.Cys2190fs (c.6568delT); ClinVar=VCV000982280; Zygosity=Heterozygous (PubMed=34237592).
  • Mutation; 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
Aarts C.E.M., Varga E., Webbers S., Geissler J., von Lindern M., Kuijpers T.W., van den Akker E.
Generation and characterization of a human iPSC line SANi006-A from a Gray platelet syndrome patient.
Stem Cell Res. 55:102443-102443(2021)

Cross-references
Cell line databases/resources hPSCreg; SANi006-A
Encyclopedic resources Wikidata; Q108821260
Entry history
Entry creation23-Sep-2021
Last entry update16-Dec-2021
Version number2