期刊
STEM CELL RESEARCH
卷 24, 期 -, 页码 102-105出版社
ELSEVIER
DOI: 10.1016/j.scr.2017.08.020
关键词
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资金
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) of the National Institutes of Health (NIH) [1R01AR068293]
- Health Institute Carlos III and FEDER [FIS PI13-01739]
- CCSG at the Characterized Cell Line Core Facility of the University of Texas MD Anderson Center [CA016672]
Recently, a new type of limb-girdle muscular dystrophy (LGMD type 2Z) has been identified due to a missense mutation in POGLUT1 (protein O-glucosyltransferase-Rumi), an enzyme capable of adding glucose to a distinct serine residue of epidermal growth factor-like repeats containing a C-X-S-X-(P/A)-C consensus sequence such as Notch receptors. Affected patients demonstrate reduced Notch signaling, decreased muscle stem cell pool and hypoglycosylation of alpha-dystroglycan, leading to LGMD phenotype. Here we report the generation and characterization of an iPSC line (CSCRMi001-A) from a LGMD-2Z patient with missense mutation in POGLUT1 which can be used for in vitro disease modeling. (C) 2017 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license
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