Cellosaurus cell line CGMHi001-A (CVCL

Cellosaurus CGMHi001-A (CVCL_WG66)

Cross-references
Cell line name	CGMHi001-A
Synonyms	CGMH.SLC26A4919-2
Accession	CVCL_WG66
Resource Identification Initiative	To cite this cell line use: CGMHi001-A (RRID:CVCL_WG66)
Comments	From: Chang Gung Memorial Hospital, Lin-Kou Medical Centre, Chang Gung University; Tao-Yuan; Taiwan. Population: Chinese; Taiwan. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:8818; SLC26A4; Simple; c.919-2A>G (IVS7AS,A-G,-2); ClinVar=VCV000004840; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=31415960).
Disease	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (NCIt: C158787) Pendred syndrome (NCIt: C121745) Autosomal recessive non-syndromic sensorineural deafness type DFNB (ORDO: Orphanet_90636) Pendred syndrome (ORDO: Orphanet_705)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	9Y
Category	Induced pluripotent stem cell
Publications	PubMed=31415960; DOI=10.1016/j.scr.2019.101524 Yen-Fu Cheng, Yen-Hui Chan, Chin-Ju Hu, Ying-Chang Lu, Tsubasa Saeki, Makoto Hosoya, Chika Saegusa, Masato Fujioka, Hideyuki Okano, Shih-Ming Weng, Chuan-Jen Hsu ...Show all 13 authors... , Kuo-Hsuan Chang, Chen-Chi Wu; Show fewer authors Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation. Stem Cell Res. 40:101524-101524(2019)
Cell line databases/resources	hPSCreg; CGMHi001-A SKIP; SKIP005552
Encyclopedic resources	Wikidata; Q93448047
Entry history
Entry creation	24-May-2019
Last entry update	19-Dec-2024
Version number	11