Cellosaurus cell line CHARGE2-1 (CVCL

Cross-references
Cell line name	CHARGE2-1
Synonyms	CH2#1
Accession	CVCL_LJ33
Resource Identification Initiative	To cite this cell line use: CHARGE2-1 (RRID:CVCL_LJ33)
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_LJ34 ! CHARGE2-16 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 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)
Encyclopedic resources	Wikidata; Q54811732
Entry history
Entry creation	15-Nov-2017
Last entry update	19-Dec-2024
Version number	9