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Article

Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation into Osteoclasts.

Stem cell reports - 14 Nov 2017

Chen I-Ping, Luxmi Raj, Kanaujiya Jitendra, Hao Zhifang, Reichenberger Ernst J

Abstract excerpt

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...

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Source

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Identifiers

PMID: 29056330
DOI: 10.1016/j.stemcr.2017.09.016
PMCID: PMC5830990

Genes

ANKH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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