Ontology highlight
ABSTRACT:
SUBMITTER: Maetzel D
PROVIDER: S-EPMC4050353 | biostudies-literature | 2014 Jun
REPOSITORIES: biostudies-literature
Maetzel Dorothea D Sarkar Sovan S Wang Haoyi H Abi-Mosleh Lina L Xu Ping P Cheng Albert W AW Gao Qing Q Mitalipova Maisam M Jaenisch Rudolf R
Stem cell reports 20140515 6
Niemann-Pick type C (NPC) disease is a fatal inherited lipid storage disorder causing severe neurodegeneration and liver dysfunction with only limited treatment options for patients. Loss of NPC1 function causes defects in cholesterol metabolism and has recently been implicated in deregulation of autophagy. Here, we report the generation of isogenic pairs of NPC patient-specific induced pluripotent stem cells (iPSCs) using transcription activator-like effector nucleases (TALENs). We observed dec ...[more]