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Cellosaurus SANi008-A (CVCL_A0JX)

[Text version]
Cell line name SANi008-A
Synonyms PE2S.LYST40.cl6; LYST clone 6
Accession CVCL_A0JX
Resource Identification Initiative To cite this cell line use: SANi008-A (RRID:CVCL_A0JX)
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; 1968; LYST; Simple; p.Glu1441Valfs*11 (c.4322_4325delAGAG); ClinVar=VCV001173104; Zygosity=Heterozygous (PubMed=34224985).
  • Mutation; HGNC; 1968; LYST; Simple; p.Asn3376Ser (c.10127A>G); ClinVar=VCV000065529; Zygosity=Heterozygous (PubMed=34224985).
Disease Chediak-Higashi syndrome (NCIt: C2941)
Chediak-Higashi syndrome (ORDO: Orphanet_167)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=34224985; DOI=10.1016/j.scr.2021.102442
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 SANi008-A from a Chediak-Higashi syndrome patient.
Stem Cell Res. 55:102442-102442(2021)

Cross-references
Cell line databases/resources hPSCreg; SANi008-A
Encyclopedic resources Wikidata; Q108821262
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number4