Cellosaurus cell line JTUi001-A (CVCL

Cross-references
Cell line name	JTUi001-A
Accession	CVCL_YP16
Resource Identification Initiative	To cite this cell line use: JTUi001-A (RRID:CVCL_YP16)
Comments	From: Sixth People's Hospital, Shanghai Jiao Tong University; Shanghai; China. Population: Chinese; Han. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:20626; CHD7; Simple; p.Leu1151Glyfs*17 (c.3449_3450delTC); Zygosity=Heterozygous; Note=De novo mutation (PubMed=32247258).
Disease	CHARGE syndrome (NCIt: C75100) CHARGE syndrome (ORDO: Orphanet_138)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	1-2Y
Category	Induced pluripotent stem cell
Publications	PubMed=32247258; DOI=10.1016/j.scr.2020.101774 Shou-Huan He, Jin-Tao Hu, Zhong Zheng, Jing-Jing Wang, Jian-Ling Chen, Cui Zhang, Liang Li, Ji-Ping Wang, Zheng-Nong Chen, Hai-Bo Shi, Jin-Fu Wang; Establishment of an induced pluripotent stem cell line from a patient with CHARGE syndrome carrying a CHD7 (p.L1151Gfs*17) mutation. Stem Cell Res. 45:101774-101774(2020)
Cell line databases/resources	hPSCreg; JTUi001-A SKIP; SKIP005786
Biological sample resources	BioSamples; SAMEA6602307
Encyclopedic resources	Wikidata; Q94332505
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	9