ABSTRACT
Hypomyelinating leukodystrophies (HLD) are a group of heterogeneous genetic disorders characterized by a deficit in myelin deposition during brain development. Specifically, 4H-Leukodystrophy is a recessive disease due to biallelic mutations in the POLR3A gene, which encodes one of the subunits forming the catalytic core of RNA polymerase III (PolIII). The disease also presents non-neurological signs such as hypodontia and hypogonadotropic hypogonadism. Here, we report the generation of a human induced pluripotent stem cell (hiPSC) line from fibroblasts of the first identified carrier of the biallelic POLR3A variants c.1802 T > A and c.4072G > A.
Subject(s)
Induced Pluripotent Stem Cells , RNA Polymerase III , Humans , Induced Pluripotent Stem Cells/metabolism , RNA Polymerase III/genetics , RNA Polymerase III/metabolism , Cell Line , Hereditary Central Nervous System Demyelinating Diseases/genetics , Hereditary Central Nervous System Demyelinating Diseases/pathology , Male , AllelesABSTRACT
Familial Hypocalciuric Hypercalcemia (FHH1) is a rare autosomal dominant disease with low penetrance, caused by inactivating mutations of the calcium-sensing receptor (CaSR) gene, characterized by significant hypercalcemia, inappropriately normal serum PTH levels and a low urinary calcium level. Human induced pluripotent stem cells (hiPSCs) from a patient carrying a previously identified heterozygous mutation, a p.T972M amino acid substitution in cytoplasmic tail of CasR, were produced using a virus, xeno-free and non-integrative protocol.
Subject(s)
Hypercalcemia , Induced Pluripotent Stem Cells , Humans , Point Mutation , Receptors, Calcium-Sensing/genetics , Receptors, Calcium-Sensing/metabolism , Induced Pluripotent Stem Cells/metabolism , Hypercalcemia/genetics , Mutation , CalciumABSTRACT
Huntington's disease (HD) is an incurable, autosomal dominant, hereditary neurodegenerative disorder that typically manifests itself in midlife. This pathology is linked to the deregulation of multiple, as yet unknown, cellular processes starting before HD onset. A human iPS cell line was generated from skin fibroblasts of a subject at the presymptomatic life stage, carrying a polyglutamine expansion in HTT gene codifying Huntingtin protein. The iPSC line contained the expected CAG expansion, expressed the expected pluripotency markers, displayed in vivo differentiation potential to the three germ layers and had a normal karyotype.
