Cellosaurus cell line TVGH-iPSC-012-04 (CVCL

Cross-references
Cell line name	TVGH-iPSC-012-04
Synonyms	TVGHi002-A
Accession	CVCL_QY14
Resource Identification Initiative	To cite this cell line use: TVGH-iPSC-012-04 (RRID:CVCL_QY14)
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:12703; BEST1; Simple; p.Glu119Glnfs*3 (c.346_355dupGGCAAGGACG); Zygosity=Unspecified (PubMed=29660606).
Disease	Vitelliform macular dystrophy (NCIt: C118788) Best vitelliform macular dystrophy (ORDO: Orphanet_1243)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	11Y
Category	Induced pluripotent stem cell
Publications	PubMed=29660606; DOI=10.1016/j.scr.2018.03.019 Chih-Chien Hsu, Huai-En Lu, Jen-Hua Chuang, Yu-Ling Ko, Yi-Ching Tsai, Hsiao-Yun Tai, Aliaksandr A. Yarmishyn, De-Kuang Hwang, Mong-Lien Wang, Yi-Ping Yang, Shih-Jen Chen ...Show all 14 authors... , Chi-Hsien Peng, Shih-Hwa Chiou, Tai-Chi Lin; Show fewer authors Generation of induced pluripotent stem cells from a patient with Best dystrophy carrying 11q12.3 (BEST1 (VMD2)) mutation. Stem Cell Res. 29:134-138(2018)
Cell line collections (Providers)	BCRC; SC81072
Cell line databases/resources	hPSCreg; TVGHi002-A SKIP; SKIP005668
Encyclopedic resources	Wikidata; Q54973396
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	10