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). [electronic resource]
- Stem cell research 10 2017
- 102-105 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
1876-7753
10.1016/j.scr.2017.08.020 doi
Adult Cell Line Glucosyltransferases--genetics Humans Induced Pluripotent Stem Cells--metabolism Male Muscular Dystrophies, Limb-Girdle--genetics Mutation Mutation, Missense