Cellosaurus cell line TVGHi007-A (CVCL

Cross-references
Cell line name	TVGHi007-A
Synonyms	DE5205
Accession	CVCL_YE47
Resource Identification Initiative	To cite this cell line use: TVGHi007-A (RRID:CVCL_YE47)
Comments	From: Taipei Veterans General Hospital; Taipei; Taiwan. Population: Chinese; Taiwan. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Leu79Cysfs*3 (c.235delC); ClinVar=VCV000017014; Zygosity=Homozygous (PubMed=32388442).
Disease	Deafness, autosomal recessive 1A (NCIt: C129022) Autosomal recessive non-syndromic sensorineural deafness type DFNB (ORDO: Orphanet_90636)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	7Y
Category	Induced pluripotent stem cell
Publications	PubMed=32388442; DOI=10.1016/j.scr.2020.101795 Chun-Ying Huang, Yu-Hwai Tsai, Yi-Ching Tsai, Ying-Chang Lu, Yen-Hui Chan, Chuan-Jen Hsu, Shih-Hwa Chiou, Chen-Chi Wu, Yen-Fu Cheng; Establishment of an induced pluripotent stem cell (iPSC) line from a 7-year-old male patient with profound hearing loss carrying c.235delC in GJB2 gene. Stem Cell Res. 45:101795-101795(2020)
Cell line databases/resources	hPSCreg; TVGHi007-A SKIP; SKIP005794
Encyclopedic resources	Wikidata; Q98133702
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	8