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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
Hironobu Okuno, Francois Renault-Mihara, Shigeki Ohta, Kimiko Fukuda, Kenji Kurosawa, Wado Akamatsu, Tsukasa Sanosaka, Jun Kohyama, Kanehiro Hayashi, Kazunori Nakajima, Takao Takahashi ...Show all 14 authors... , Joanna K. Wysocka, Kenjiro Kosaki, Hideyuki Okano; Show fewer authors
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