RT Journal Article
T1 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).
A1 Wu, Jianbo
A1 Hunt, Samuel D
A1 Matthias, Nadine
A1 Servián-Morilla, Emilia
A1 Lo, Jonathan
A1 Jafar-Nejad, Hamed
A1 Paradas, Carmen
A1 Darabi, Radbod
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 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 α-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.
YR 2017
FD 2017-09-01
LK http://hdl.handle.net/10668/11686
UL http://hdl.handle.net/10668/11686
LA en
DS RISalud
RD Apr 11, 2025