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Cellosaurus CHARGE1-11 (CVCL_LJ31)

[Text version]
Cell line name CHARGE1-11
Synonyms CH1#11
Accession CVCL_LJ31
Resource Identification Initiative To cite this cell line use: CHARGE1-11 (RRID:CVCL_LJ31)
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_Y954 ! CHARGE1-13
CVCL_Y955 ! CHARGE1-20
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; Q54811727
Entry history
Entry creation15-Nov-2017
Last entry update19-Dec-2024
Version number9