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Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene. 2020

Nidaa A Ababneh, and Ban Al-Kurdi, and Dema Ali, and Duaa Abuarqoub, and Raghda Barham, and Abdulla M Alzibdeh, and Asim N Khanfar, and Ahmad M Altantawi, and Abdee T Ryalat, and Basil Sharrack, and Abdalla Awidi
Cell Therapy Center, The University of Jordan, Amman, Jordan. Electronic address: n.ababneh@ju.edu.jo.

Ataxia with Oculomotor Apraxia Type 1 (AOA1) is an autosomal-recessive cerebellar ataxia characterized by early-onset cerebellar atrophy and axonal sensorimotor polyneuropathy. AOA1 is related to mutations in the aprataxin (APTX) gene encoding for the aprataxin protein. The aprataxin protein has been reported to be involved in DNA single-strand break repair (SSBR) machinery and it localizes to the mitochondria to preserve the mitochondrial function. Here, we demonstrate the generation of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from AOA1 patient's skin dermal fibroblasts. The selected line showed normal karyotype, expression of pluripotency markers and the ability to differentiatie in vitro into the three germ layers.

UI MeSH Term Description Entries
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D009687 Nuclear Proteins Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus. Nucleolar Protein,Nucleolar Proteins,Nuclear Protein,Protein, Nuclear,Protein, Nucleolar,Proteins, Nuclear,Proteins, Nucleolar
D002524 Cerebellar Ataxia Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90) Adiadochokinesis,Ataxia, Cerebellar,Cerebellar Dysmetria,Dysmetria,Cerebellar Hemiataxia,Cerebellar Incoordination,Hypermetria,Adiadochokineses,Ataxias, Cerebellar,Cerebellar Ataxias,Cerebellar Dysmetrias,Cerebellar Hemiataxias,Cerebellar Incoordinations,Dysmetria, Cerebellar,Dysmetrias,Dysmetrias, Cerebellar,Hemiataxia, Cerebellar,Hemiataxias, Cerebellar,Hypermetrias,Incoordination, Cerebellar,Incoordinations, Cerebellar
D004268 DNA-Binding Proteins Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases. DNA Helix Destabilizing Proteins,DNA-Binding Protein,Single-Stranded DNA Binding Proteins,DNA Binding Protein,DNA Single-Stranded Binding Protein,SS DNA BP,Single-Stranded DNA-Binding Protein,Binding Protein, DNA,DNA Binding Proteins,DNA Single Stranded Binding Protein,DNA-Binding Protein, Single-Stranded,Protein, DNA-Binding,Single Stranded DNA Binding Protein,Single Stranded DNA Binding Proteins
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D057026 Induced Pluripotent Stem Cells Cells from adult organisms that have been reprogrammed into a pluripotential state similar to that of EMBRYONIC STEM CELLS. Human Induced Pluripotent Stem Cell,IPS Cell,IPS Cells,Induced Pluripotent Stem Cell,Fibroblast-Derived IPS Cells,Fibroblast-Derived Induced Pluripotent Stem Cells,Human Induced Pluripotent Stem Cells,hiPSC,Cell, Fibroblast-Derived IPS,Cell, IPS,Cells, Fibroblast-Derived IPS,Cells, IPS,Fibroblast Derived IPS Cells,Fibroblast Derived Induced Pluripotent Stem Cells,Fibroblast-Derived IPS Cell,IPS Cell, Fibroblast-Derived,IPS Cells, Fibroblast-Derived
D020754 Spinocerebellar Ataxias A group of predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43) Spinocerebellar Ataxia Type 1,Spinocerebellar Ataxia Type 2,Spinocerebellar Ataxia Type 4,Spinocerebellar Ataxia Type 5,Spinocerebellar Ataxia Type 6,Spinocerebellar Ataxia Type 7,Spinocerebellar Atrophies,Autosomal Dominant Cerebellar Ataxia, Type II,Cerebellar Degeneration with Slow Eye Movements,Cerebelloparenchymal Disorder I,Dominantly-Inherited Spinocerebellar Ataxias,Menzel Type OPCA,OPCA with Macular Degeneration and External Ophthalmoplegia,OPCA with Retinal Degeneration,Olivopontocerebellar Atrophy 2,Olivopontocerebellar Atrophy I,Olivopontocerebellar Atrophy II,Olivopontocerebellar Atrophy III,Olivopontocerebellar Atrophy IV,Olivopontocerebellar Atrophy, Holguin Type,SCA1,Schut-Haymaker Type OPCA,Spinocerebellar Ataxia 1,Spinocerebellar Ataxia 2,Spinocerebellar Ataxia 4,Spinocerebellar Ataxia 5,Spinocerebellar Ataxia 6,Spinocerebellar Ataxia 7,Spinocerebellar Ataxia with Slow Eye Movements,Spinocerebellar Ataxia, Autosomal Dominant, with Sensory Axonal Neuropathy,Spinocerebellar Ataxia, Cuban Type,Spinocerebellar Ataxia-1,Spinocerebellar Ataxia-2,Spinocerebellar Ataxia-4,Spinocerebellar Ataxia-5,Spinocerebellar Ataxia-6,Spinocerebellar Ataxia-7,Spinocerebellar Ataxias, Dominantly-Inherited,Spinocerebellar Atrophy 2,Spinocerebellar Atrophy I,Spinocerebellar Atrophy II,Spinocerebellar Degeneration with Slow Eye Movements,Type 1 Spinocerebellar Ataxia,Type 2 Spinocerebellar Ataxia,Type 4 Spinocerebellar Ataxia,Type 5 Spinocerebellar Ataxia,Type 6 Spinocerebellar Ataxia,Type 7 Spinocerebellar Ataxia,Wadia Swami Syndrome,Wadia-Swami Syndrome,Ataxia 1, Spinocerebellar,Ataxia 2, Spinocerebellar,Ataxia 4, Spinocerebellar,Ataxia 5, Spinocerebellar,Ataxia 6, Spinocerebellar,Ataxia 7, Spinocerebellar,Ataxia, Dominantly-Inherited Spinocerebellar,Ataxia, Spinocerebellar,Ataxias, Dominantly-Inherited Spinocerebellar,Ataxias, Spinocerebellar,Atrophies, Spinocerebellar,Atrophy 2, Olivopontocerebellar,Atrophy 2, Spinocerebellar,Atrophy 2s, Olivopontocerebellar,Atrophy 2s, Spinocerebellar,Atrophy I, Olivopontocerebellar,Atrophy I, Spinocerebellar,Atrophy II, Olivopontocerebellar,Atrophy III, Olivopontocerebellar,Atrophy IIs, Spinocerebellar,Atrophy IV, Olivopontocerebellar,Atrophy IVs, Olivopontocerebellar,Atrophy, Spinocerebellar,Cerebelloparenchymal Disorder Is,Dominantly Inherited Spinocerebellar Ataxias,Dominantly-Inherited Spinocerebellar Ataxia,OPCA, Menzel Type,OPCA, Schut-Haymaker Type,Olivopontocerebellar Atrophy 2s,Olivopontocerebellar Atrophy IIIs,Olivopontocerebellar Atrophy IIs,Olivopontocerebellar Atrophy IVs,Olivopontocerebellar Atrophy Is,SCA1s,Schut Haymaker Type OPCA,Spinocerebellar Ataxia,Spinocerebellar Ataxia 1s,Spinocerebellar Ataxia 2s,Spinocerebellar Ataxia 4s,Spinocerebellar Ataxia 5s,Spinocerebellar Ataxia 6s,Spinocerebellar Ataxia 7s,Spinocerebellar Ataxia, Dominantly-Inherited,Spinocerebellar Ataxias, Dominantly Inherited,Spinocerebellar Atrophy,Spinocerebellar Atrophy 2s,Spinocerebellar Atrophy IIs,Spinocerebellar Atrophy Is,Swami Syndrome, Wadia,Syndrome, Wadia Swami,Syndrome, Wadia-Swami

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