Cell Lines and Biological Samples of Barth Syndrome

Over the years BSF and BSF researchers have collected and stored biological samples from many individuals. The easiest accessible collection is a set of transformed lymphoblast cell lines stored at the Coriell Institute for Medical Research (https://www.coriell.org). For cell lines collected by individual researchers and published upon but not mentioned in this webpage, one needs to contact the specific researcher. Please contact BSF Science Director, Matthew Toth, for help.


1) Coriell samples as of 12/22/2017
(https://www.coriell.org/0/Sections/BrowseCatalog/DiseaseDetail.aspx?PgId=403&omim=BTH30206&coll=)

2)  BSF maintains ~ 40 cell lines (transformed lymphoblasts) at the Johns Hopkins GRCF Cell Center and Biorepository. Please contact Science Director, Matthew Toth, for more information.

3)  BSF maintains biological samples of tissue, plasma, serum, and DNA at the Johns Hopkins GRCF Cell Center and Biorepository and at the University of Florida. Please contact Science Director, Matthew Toth, for more information.

4) For induced pluripotent stem cells (iPS cells), please contact the senior authors of the papers below for more information:

  • Dudek J, Cheng IF, Chowdhury A, Wozny K, Balleininger M, Reinhold R, Grunau S, Callegari S, Toischer K, Wanders RJ, Hasenfuß G, Brügger B, Guan K, Rehling P. Cardiac-specific succinate dehydrogenase deficiency in Barth syndrome. EMBO Mol Med. 2015 Dec 23. pii: e201505644. doi: 10.15252/emmm.201505644. (PubMed – Open Access)▼
  • Wang G, McCain ML, Yang L, He A, Pasqualini FS, Agarwal A, Yuan H, Jiang D, Zhang D, Zangi L, Geva J, Roberts AE, Ma Q, Ding J, Chen J, Wang DZ, Li K, Wang J, Wanders RJA, Kulik W, Vaz FM, Laflamme MA, Murry CE, Chien KR, Kelley RI, Church GM, Parker K, Pu WT. Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies. Nat Med. 2014 Jun;20(6):616-23. doi:10.1038/nm.3545  Epub. 2014 May 11. (PubMed – Open Access)*▼

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