| Autor: |
I.O. Panchuk, O.V. Grigorieva, E.V. Kondrateva, E.V. Kurshakova, VYu. Tabakov, I.O. Bychkov, EYu. Zakharova, M.D. Orlova, E.S. Voronina, V.O. Pozhitnova, A.V. Lavrov, S.A. Smirnikhina, S.I. Kutsev |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 71, Iss , Pp 103183- (2023) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2023.103183 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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