Ontology highlight
ABSTRACT:
SUBMITTER: Chen IP
PROVIDER: S-EPMC5830990 | biostudies-other | 2017 Nov
REPOSITORIES: biostudies-other
Chen I-Ping IP Luxmi Raj R Kanaujiya Jitendra J Hao Zhifang Z Reichenberger Ernst J EJ
Stem cell reports 20171019 5
We identified osteoclast defects in craniometaphyseal dysplasia (CMD) using an easy-to-use protocol for differentiating osteoclasts from human induced pluripotent stem cells (hiPSCs). CMD is a rare genetic bone disorder, characterized by life-long progressive thickening of craniofacial bones and abnormal shape of long bones. hiPSCs from CMD patients with an in-frame deletion of Phe377 or Ser375 in ANKH are more refractory to in vitro osteoclast differentiation than control hiPSCs. To exclude dif ...[more]