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Stem Cell Res ; 71: 103183, 2023 09.
Article in English | MEDLINE | ID: mdl-37643494

ABSTRACT

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.


Subject(s)
Hearing Loss , Induced Pluripotent Stem Cells , Mucopolysaccharidosis IV , Humans , Cell Differentiation , Fibroblasts , Hearing Loss/genetics
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