Derivation of iPSC line UMi029-A bearing a hearing-loss associated variant in the SMPX gene.

Autor:	Dykxhoorn DM; John P. Hussman Institute for Human Genomics, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, USA., Tong X; Department of Otolaryngology, University of Miami Miller School of Medicine, USA., Gosstola NC; Department of Otolaryngology, University of Miami Miller School of Medicine, USA., Liu XZ; Dr. John T. Macdonald Foundation Department of Human Genetics, USA; Department of Otolaryngology, University of Miami Miller School of Medicine, USA. Electronic address: x.liu1@med.miami.edu.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2021 Jul; Vol. 54, pp. 102405. Date of Electronic Publication: 2021 May 24.
DOI:	10.1016/j.scr.2021.102405
Abstrakt:	Hereditary hearing loss (HL) is the most common sensory disorder with multiple potential modes of inheritance, such as X-linked. Multiple loci have been associated with X-linked HL, including variants in the Small Muscle Protein X-Linked (SMPX) gene responsible for deafness, X-linked 4 (DFNX4) (OMIM 300066). Here we describe the derivation of an induced pluripotent stem cell (iPSC) line from an individual bearing a novel splice variant (c.133-1 G > A) that leads to a frameshift creating a premature stop codon (p.(Gly45Val*36)) in SMPX[1]. (Copyright © 2021. Published by Elsevier B.V.)
Databáze:	MEDLINE
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