Generation of the iPSC line CRNLi001-A from a patient with microcephaly and harbouring the most recurrent RTTN variant, c.2953A>G, at homozygous state

RTTN, encoding the centrosomal protein rotatin, has been reported in about 40 patients with mild to severe microcephaly, intellectual deficiency and facial dysmorphism. The most recurrent variant in this gene is c.2953A > G, identified at the homozygous state in 4 families. Skin fibroblasts were obtained from a 22-month-old female patient, and induced pluripotent stem cells (iPSC) were generated using episomal expression of Yamanaka's factors. This iPSC line presents classical morphology, pluripotency markers expression and can successfully differentiate into the three germ layers. This line represents a useful tool to study RTTN deficiency in tissue development, notably the brain.