Cellosaurus cell line BTH-H (CVCL

Cross-references
Cell line name	BTH-H
Synonyms	BTHH
Accession	CVCL_ZW17
Resource Identification Initiative	To cite this cell line use: BTH-H (RRID:CVCL_ZW17)
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:11577; TAFAZZIN; Simple; p.Asp173Thrfs*11 (c.517delG); ClinVar=VCV001704478; Zygosity=Hemizygous (PubMed=24813252).
Disease	Barth syndrome (NCIt: C84585) Barth syndrome (ORDO: Orphanet_111)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	Adult
Category	Induced pluripotent stem cell
Publications	PubMed=24813252; DOI=10.1038/nm.3545; PMCID=PMC4172922 Gang Wang, Megan L. McCain, Lu-Han Yang, Ai-Bin He, Francesco Silvio Pasqualini, Ashutosh Agarwal, Hong-Yan Yuan, Da-Wei Jiang, Dong-Hui Zhang, Lior Zangi, Judith Geva ...Show all 28 authors... , Amy E. Roberts, Qing Ma, Jian Ding, Jing-Hai Chen, Da-Zhi Wang, Kai Li, Ji-Wu Wang, Ronald J.A. Wanders, Wim Kulik, Frederic M. Vaz, Michael Alan Laflamme, Charles E. Murry, Kenneth Randall Chien, Richard I. Kelley, George McDonald Church, Kevin Kit Parker, William T. Pu; Show fewer authors Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies. Nat. Med. 20:616-623(2014)
Encyclopedic resources	Wikidata; Q102113647
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	8