Generation of two iPSC lines from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12

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...

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Bibliographic Details
Published in:	Stem cell research Vol. 71; p. 103183
Main Authors:	Panchuk, I.O., Grigorieva, O.V., Kondrateva, E.V., Kurshakova, E.V., Tabakov, VYu, Bychkov, I.O., Zakharova, EYu, Orlova, M.D., Voronina, E.S., Pozhitnova, V.O., Lavrov, A.V., Smirnikhina, S.A., Kutsev, S.I.
Format:	Journal Article
Language:	English
Published:	Elsevier 01-09-2023
Subjects:	Cell reprogramming Induced pluripotent stem cells (iPSC) mucopolysaccharidosis IV B type Pluripotency
Online Access:	Get full text
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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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1873-5061 1876-7753
DOI:	10.1016/j.scr.2023.103183