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

Author:

Panchuk I.O.ORCID,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.

Funder

Ministry of Education and Science of the Russian Federation

Publisher

Elsevier BV

Subject

Cell Biology,Developmental Biology,General Medicine

Reference3 articles.

1. Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape;Bychkov;Npj Genomic Medicine,2022

2. Cassandra L Kniffin. (2012, March 19). DEAFNESS, AUTOSOMAL RECESSIVE 12. Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) 04/01/2023. World Wide Web URL: https://www.Omim.org/entry/601386.

3. β-Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy;Pedersen;JIMD Reports,2022

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