Cellosaurus logo
expasy logo

Cellosaurus CHARGE1-20 (CVCL_Y955)

[Text version]
Cell line name CHARGE1-20
Synonyms CH1#20; HPS0094
Accession CVCL_Y955
Resource Identification Initiative To cite this cell line use: CHARGE1-20 (RRID:CVCL_Y955)
Comments From: Keio University School of Medicine; Tokyo; Japan.
Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:20626; CHD7; Simple; p.Gln1391fs*13 (c.4171delC); Zygosity=Heterozygous (PubMed=29179815).
Disease CHARGE syndrome (NCIt: C75100)
CHARGE syndrome (ORDO: Orphanet_138)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_LJ32 ! CHARGE1-7
CVCL_LJ31 ! CHARGE1-11
CVCL_Y954 ! CHARGE1-13
CVCL_Y956 ! CHARGE1-25
Sex of cell Male
Age at sampling 10-11Y
Category Induced pluripotent stem cell
Publications

PubMed=29179815; DOI=10.7554/eLife.21114; PMCID=PMC5705211
Okuno H., Renault-Mihara F., Ohta S., Fukuda K., Kurosawa K., Akamatsu W., Sanosaka T., Kohyama J., Hayashi K., Nakajima K., Takahashi T., Wysocka J.K., Kosaki K., Okano H.
CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations.
eLife 6:e21114.1-e21114.26(2017)

Cross-references
Encyclopedic resources Wikidata; Q54811729
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number11