@article{ea8e25ae18584757afa0ce004ab8db55,
title = "Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene",
abstract = "Central core disease (CCD) is a congenital disorder that results in hypotonia, delayed motor development, and areas of reduced oxidative activity in the muscle fibre. Two induced pluripotent stem cell (iPSC) lines were generated from the lymphoblastoid cells of a 33-year-old male with CCD, caused by a previously unreported dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene. Both lines demonstrated typical morphology, pluripotency, trilineage differentiation, and had a normal karyotype. As the first published iPSC model of CCD caused by an RYR1 variant these lines are a potential resource for further investigation of RYR1-related myopathies in a human context.",
author = "Karrison Driver and Christina Vo and Scriba, {Carolin K.} and Safaa Saker and Thierry Larmonier and Edoardo Malfatti and Romero, {Norma B.} and Gianina Ravenscroft and Laing, {Nigel G.} and Taylor, {Rhonda L.} and Clayton, {Joshua S.}",
note = "Funding Information: This work was supported by funding from the Stan Perron Charitable Foundation (202003010 Research), awarded to Rhonda Taylor. We also gratefully acknowledge funding from the Australian National Health and Medical Research Council (NHMRC), including an EL2 Investigator Grant (APP2007769) to Gianina Ravenscroft. Rhonda Taylor is supported by a Raine Priming Grant (RPG54-21) from the Raine Medical Research Foundation. Publisher Copyright: {\textcopyright} 2023 The Authors",
year = "2023",
month = dec,
doi = "10.1016/j.scr.2023.103258",
language = "English",
volume = "73",
journal = "Stem Cell Research",
issn = "1873-5061",
publisher = "Pergamon",
}
