Article
Derivation of induced pluripotent stem cell from a Baraitser-Winter Cerebrofrontofacial syndrome with ACTB mutation.
Stem cell research - 1 Dec 2024
Hou Xiaolin, Wang Zhaoxi, Guo Ruiyun, Zhou Zijing, Zhang Jing, Li Yan, Yao Akogo Herman, Ma Jiajia, Chen Wenqi, Sun Donglan, Ma Jun, Guo Qing, Cui Huixian
Abstract excerpt
Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF, OMIM: 243310) is a rare congenital developmental disorder marked by distinct facial dysmorphisms, coloboma, diminutive stature, and cognitive impairment, as initially described by Baraitser and Winter in 1988. Here, we derived human induced pluripotent stem cells (hiPSCs) from a 4-year-old male patient diagnosed with Baraitser-Winter Cerebrofrontofacial...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.