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Cellosaurus CHD-26 (CVCL_ZW18)

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Cell line name CHD-26
Synonyms iPSC.1
Accession CVCL_ZW18
Resource Identification Initiative To cite this cell line use: CHD-26 (RRID:CVCL_ZW18)
Comments From: National Human Genome Research Institute; Bethesda; USA.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:1968; LYST; Simple; p.Arg503Ter (c.1507C>T); ClinVar=VCV000620096; Zygosity=Heterozygous (PubMed=32619719).
  • Mutation; HGNC; HGNC:1968; LYST; Simple; p.Gly3309Ser (c.9925G>A); Zygosity=Heterozygous (PubMed=32619719).
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 27Y
Category Induced pluripotent stem cell
Publications

PubMed=32619719; DOI=10.1016/j.scr.2020.101883
Jenny Serra-Vinardell, Maxwell B. Sandler, Evgenia Pak, Wei Zheng, Amalia Dutra, Wendy Jewell Introne, William A. Gahl, May Christine V. Malicdan;
Generation and characterization of four Chediak-Higashi syndrome (CHS) induced pluripotent stem cell (iPSC) lines.
Stem Cell Res. 47:101883-101883(2020)

Cross-references
Encyclopedic resources Wikidata; Q102113674
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number6