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Cellosaurus CHD-19 (CVCL_ZW19)

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Cell line name CHD-19
Synonyms iPSC.2
Accession CVCL_ZW19
Resource Identification Initiative To cite this cell line use: CHD-19 (RRID:CVCL_ZW19)
Comments From: National Human Genome Research Institute; Bethesda; USA.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1968; LYST; Simple; p.Arg1104Ter (c.3310C>T); ClinVar=VCV000003809; Zygosity=Heterozygous (PubMed=32619719).
  • Mutation; HGNC; HGNC:1968; LYST; Simple; p.Gly3408Arg (c.10222G>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 24Y
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; Q102113673
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number7