Generation and characterization of two isogenic induced pluripotent stem cell lines from a young female with microcephaly carrying a compound heterozygous mutation in BUB1 gene

Ferreira, Anita; Calado, Sofia; Jorge, Xavier; Lange, Job de; Carvalhal, Sara

http://hdl.handle.net/10400.1/26348

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Mutations in the Budding uninhibited by benzimidazoles (BUB1) gene were recently associated with neurodevelopmental disorders (Carvalhal et al., 2022). Here, we describe the generation and characterization of two induced pluripotent stem cells (iPSC) clones from a young female with microcephaly. The patient carried two variants in the BUBfibroblast gene (OMIM # 602452), one (c.[2197dupG]; p.[D732fs*11]) paternally inherited and one (c.[2625+1G>A]; p.[V822_L875del] maternally inherited. The generated clones exhibit a normal karyotype (UALGi003-A) and trisomy 8 (UALGi003-B), express pluripotency markers, and differentiate into trilineage cells in vitro. These cell lines can be used to study neurodevelopment and the processes of chromosome segregation.

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Neurodevelopmental disorders iPSC Autosomal recessive primary microcephaly (MCPH) (MCPH)Autosomal recessive primary microcephaly 30 (MCPH 30) Cohesinopathy Mosaic variegated aneuploidy (MVA) Syndrome BUB1