TY  - JOUR
AU  - Wu, Jianbo
AU  - Hunt, Samuel D
AU  - Matthias, Nadine
AU  - Servián-Morilla, Emilia
AU  - Lo, Jonathan
AU  - Jafar-Nejad, Hamed
AU  - Paradas, Carmen
AU  - Darabi, Radbod
PY  - 2017
DO  - 10.1016/j.scr.2017.08.020
UR  - http://hdl.handle.net/10668/11686
T2  - Stem cell research
AB  - 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...
LA  - en
KW  - Adult
KW  - Cell Line
KW  - Glucosyltransferases
KW  - Humans
KW  - Induced Pluripotent Stem Cells
KW  - Male
KW  - Muscular Dystrophies, Limb-Girdle
KW  - Mutation
KW  - Mutation, Missense
TI  - 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).
TY  - research article
VL  - 24
ER  -