DSpace Собрание: Stem Cell Research
http://hdl.handle.net/20.500.12701/896
Stem Cell Research2024-02-17T21:28:44ZEstablishment of an induced pluripotent stem cell line (ICGi025-A) from fibroblasts of a patient with 46,XY,r(8)/45,XY,–8 mosaicism
http://hdl.handle.net/20.500.12701/1880
Название: Establishment of an induced pluripotent stem cell line (ICGi025-A) from fibroblasts of a patient with 46,XY,r(8)/45,XY,–8 mosaicism
Авторы: Gridina, M.M.; Nikitina, T.V.; Orlova, P.A.; Minina, J.M.; Kashevarova, A.A.; Yakovleva, Yu.S.; Lopatkina, M.E.; Vasilyev, S.A.; Fedotov, D.A.; Mikhailik, L.I.; Nazarenko, L.P.; Lebedev, I.N.; Serova, O.L.
Краткий осмотр (реферат): Ring chromosomes are structural aberrations commonly associated with disease phenotype. We consider necessary to create the iPSCs with a ring chromosome 8, which can be used for disease modeling and related research. The ICGi025-A iPSCs line was obtained by the reprogramming of the skin fibroblasts from a 1-year-old boy with 46,XY,r(8)/45,XY,–8 mosaicism, developmental delay, microcephaly, dysmorphic features, diffuse muscle hypotonia, moderate proximal muscle weakness, feeding problems, and motor alalia. The iPSCs had expression of the pluripotency-associated markers. In vitro differentiated cells expressed the markers of the cells of three germ layers. That data allowed us to conclude that ICGi025-A cells were pluripotent.2020-10-20T00:00:00ZGeneration of iPSC line ICGi024-A from human skin fibroblasts of a patient with ring chromosome 18
http://hdl.handle.net/20.500.12701/1877
Название: Generation of iPSC line ICGi024-A from human skin fibroblasts of a patient with ring chromosome 18
Авторы: Khabarova, A.A.; Pristyazhnyuk, I.E.; Orlova, P.A.; Nikitina, T.V.; Kashevarova, A.A.; Lopatkina, M.E.; Belyaeva, E.O.; Sukhanova, N.N.; Nazarenko, L.P.; Lebedev, I.N.; Serova, O.L.
Краткий осмотр (реферат): Ring chromosome 18 is a rare chromosomal disorders that usually originate de novo and correlate with clinical manifestation: developmental delay as well as microcephaly, brain and ocular malformations, hypotonia and skeletal abnormalities. We generate iPSC clonal cell line ICGi024-A with pluripotency properties which were demonstrated in vitro by three germ layer differentiation capacity. ICGi024-A can be used for disease modeling and fundamental investigation of ring chromosome instability.2020-11-16T00:00:00ZGeneration of the induced pluripotent stem cell line, ICAGi002-A, from unaffected carrier megabase scaled duplication involving the CNTN6 gene
http://hdl.handle.net/20.500.12701/1644
Название: Generation of the induced pluripotent stem cell line, ICAGi002-A, from unaffected carrier megabase scaled duplication involving the CNTN6 gene
Авторы: Gridina, M.M.; Nikitina, T.V.; Pristyazhnyuk, I.E.; Kashevarova, A.A.; Lopatkina, M.E.; Vasilyev, S.A.; Nazarenko, L.P.; Lebedev, I.N.; Serova, O.L.
Краткий осмотр (реферат): The 3p26.3 microduplication involving the CNTN6 gene cause developmental delay and the intellectual disability. However, the incomplete penetrance is described for this copy number variation (CNV). Here we describe ICAGi002-A line, which is supposed to use as a model for studying of the penetrance of the CNV in 3p26.3. The ICAGi002-A iPSCs line was obtained by the reprogramming of the skin fibroblasts from a healthy donor with 3p26.3 microduplication involving the CNTN6 gene. The ICAGi002-A cells was pluripotent as it was shown by the expression of the pluripotency-associated markers and in vitro differentiation into the cells of three germ layers.2019-08-28T00:00:00ZGeneration of four iPSC lines from two siblings with a microdeletion at the CNTN6 gene and intellectual disability
http://hdl.handle.net/20.500.12701/1574
Название: Generation of four iPSC lines from two siblings with a microdeletion at the CNTN6 gene and intellectual disability
Авторы: Shnaider, T.A.; Pristyazhnyuk, I.E.; Menzorova, A.G.; Matveeva, N.M.; Nikitina, T.V.; Khabarova, A.A.; Skryabin, N.A.; Kashevarova, A.A.; Lopatkina, M.E.; Nazarenko, L.P.; Lebedev, I.N.; Serov, O.L.
Краткий осмотр (реферат): The human induced pluripotent stem cell (iPSC) lines, ICGi009-A, ICGi009-B, ICGi013-A and ICGi013-B, were generated from skin fibroblasts of two siblings with intellectual disability. Both patients were carriers of CNTN6 gene microdeletion (Kashevarova et al., 2014). iPSC lines have normal karyotype, express pluripotency markers, are able to differentiate in vitro into derivatives of all three germ layers and represent a unique tool to study neurodevelopmental disorders.2019-10-21T00:00:00Z