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 Wang G., McCain M.L., Yang L.-H., He A.-B., Pasqualini F.S., Agarwal A., Yuan H.-Y., Jiang D.-W., Zhang D.-H., Zangi L., Geva J., Roberts A.E., Ma Q., Ding J., Chen J.-H., Wang D.-Z., Li K., Wang J.-W., Wanders R.J.A., Kulik W., Vaz F.M., Laflamme M.A., Murry C.E., Chien K.R., Kelley R.I., Church G.M., Parker K.K., Pu W.T. 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