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Cellosaurus CHD-5 (CVCL_ZW21)

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Cell line name CHD-5
Synonyms iPSC.4
Accession CVCL_ZW21
Resource Identification Initiative To cite this cell line use: CHD-5 (RRID:CVCL_ZW21)
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.Val2651Phe (c.7951G>T); Zygosity=Heterozygous (PubMed=32619719).
  • Mutation; HGNC; HGNC:1968; LYST; Simple; p.Ala3680Glyfs*8 (c.11039_11195del); 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 Female
Age at sampling 32Y
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; Q102113676
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number6