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


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.

Authors Dykxhoorn DM, Tong X, Gosstola NC, Liu XZ
Journal Stem cell research
Publication Date 2021 Jul;54:102405
PubMed 34052664
DOI 10.1016/j.scr.2021.102405

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