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Cellosaurus SANi007-A (CVCL_A0JW)

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Cell line name SANi007-A
Synonyms PE2S.ELA239.cl9; ELA2 clone 9
Accession CVCL_A0JW
Resource Identification Initiative To cite this cell line use: SANi007-A (RRID:CVCL_A0JW)
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:3309; ELANE; Simple; c.614delG; Zygosity=Heterozygous (PubMed=34229202).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=34229202; DOI=10.1016/j.scr.2021.102440
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 SANi007-A from a patient with a heterozygous dominant mutation in ELANE.
Stem Cell Res. 55:102440-102440(2021)

Cross-references
Cell line databases/resources hPSCreg; SANi007-A
Encyclopedic resources Wikidata; Q108821261
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number5