4.2 Article

Generation of TWO G51D SNCA missense mutation iPSC lines (CRICKi011-A, CRICKi012-A) from two individuals at risk of Parkinson's disease

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Article Cell & Tissue Engineering

Generation of an iPSC line (CRICKi001-A) from an individual with a germline SMARCA4 missense mutation and autism spectrum disorder

Liani G. Devito et al.

Summary: In this study, induced pluripotent stem cells (iPSCs) were successfully generated from a male patient with an atypical Coffin Siris Syndrome (CSS) and a de novo heterozygous missense mutation in the SMARCA4 gene. The iPSCs exhibited normal morphology and molecular karyotype, expressed pluripotency markers, and could differentiate into the three germ layers.

STEM CELL RESEARCH (2021)