Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi)

Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi)

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...

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Bibliographic Details
Main Authors: Jianbo Wu, Samuel D. Hunt, Nadine Matthias, Emilia Servián-Morilla, Jonathan Lo, Hamed Jafar-Nejad, Carmen Paradas, Radbod Darabi
Format: Article
Language:English
Published: Elsevier 2017-10-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506117301824

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http://www.sciencedirect.com/science/article/pii/S1873506117301824

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