Article
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.
Stem cell research - 1 Dec 2023
Driver Karrison, Vo Christina, Scriba Carolin K, Saker Safaa, Larmonier Thierry, Malfatti Edoardo, Romero Norma B, Ravenscroft Gianina, Laing Nigel G, Taylor Rhonda L, Clayton Joshua S
Abstract excerpt
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...
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