Cellosaurus cell line CHARGE2-16 (CVCL

Cross-references
Cell line name	CHARGE2-16
Synonyms	CH2#16
Accession	CVCL_LJ34
Resource Identification Initiative	To cite this cell line use: CHARGE2-16 (RRID:CVCL_LJ34)
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.Arg1494Ter (c.4480C>T); ClinVar=VCV000158296; 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_LJ33 ! CHARGE2-1 CVCL_LJ35 ! CHARGE2-19
Sex of cell	Female
Age at sampling	>10Y
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)
Encyclopedic resources	Wikidata; Q54811733
Entry history
Entry creation	15-Nov-2017
Last entry update	19-Dec-2024
Version number	9