Generation of two iPSC lines from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12
Summary
We generated two human induced pluripotency stem cell (hiPSC) lines, RCMGi011-A and 11-B, from skin fibroblast from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12 using non-integrating, viral CytoTune™-iPS 2.0 Sendai Reprogramming Kit. We verified variant c.808 T > G and insertion in GLB1 gene, as well as two mutations, c.6992 T > C and c.805C > T, in CDH23 gene which lead to autosomal recessive hearing loss type 12. We have demonstrated normal karyotype of hiPSCs and capacity for cell differentiation into three germ layers. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Panchuk IO, Grigorieva OV, Kondrateva EV, Kurshakova EV, Tabakov V, Bychkov IO, Zakharova E, Orlova MD, Voronina ES, Pozhitnova VO, Lavrov AV, Smirnikhina SA, Kutsev SI |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Sep;71:103183 |
| PubMed | 37643494 |
| DOI | 10.1016/j.scr.2023.103183 |