Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome
Joubert syndrome (JS) is an autosomal recessive neurodevelopmental disorder, characterized by congenital cerebellar and brainstem defects, belonging to the group of disorders known as ciliopathies, which are caused by mutations in genes encoding proteins of the primary cilium and basal body. Human i...
| Main Authors: | , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2019-07-01
|
| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506119301102 |
| _version_ | 1818303438601060352 |
|---|---|
| author | Filomena Altieri Angela D'Anzi Francesco Martello Silvia Tardivo Iolanda Spasari Daniela Ferrari Laura Bernardini Giuseppe Lamorte Gianluigi Mazzoccoli Enza Maria Valente Angelo Luigi Vescovi Jessica Rosati |
| author_facet | Filomena Altieri Angela D'Anzi Francesco Martello Silvia Tardivo Iolanda Spasari Daniela Ferrari Laura Bernardini Giuseppe Lamorte Gianluigi Mazzoccoli Enza Maria Valente Angelo Luigi Vescovi Jessica Rosati |
| author_sort | Filomena Altieri |
| collection | DOAJ |
| description | Joubert syndrome (JS) is an autosomal recessive neurodevelopmental disorder, characterized by congenital cerebellar and brainstem defects, belonging to the group of disorders known as ciliopathies, which are caused by mutations in genes encoding proteins of the primary cilium and basal body. Human induced pluripotent stem cells (hiPSCs) from a patient carrying a homozygous missense mutation (c.2168G > A) in AHI1, the first gene to be associated with JS, were produced using a virus-free protocol. |
| first_indexed | 2024-12-13T05:54:48Z |
| format | Article |
| id | doaj.art-f24f72951da54164b75fa842cf17bebb |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-13T05:54:48Z |
| publishDate | 2019-07-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-f24f72951da54164b75fa842cf17bebb2022-12-21T23:57:27ZengElsevierStem Cell Research1873-50612019-07-0138Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert SyndromeFilomena Altieri0Angela D'Anzi1Francesco Martello2Silvia Tardivo3Iolanda Spasari4Daniela Ferrari5Laura Bernardini6Giuseppe Lamorte7Gianluigi Mazzoccoli8Enza Maria Valente9Angelo Luigi Vescovi10Jessica Rosati11Fondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyNeurogenetics Unit, IRCCS Santa Lucia Foundation, Rome 00143, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Medical Genetics Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyBiotechnology and Bioscience Department, Bicocca University, Piazza della Scienza 2, 20126 Milan, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Medical Genetics Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Medical Genetics Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyIRCCS Casa Sollievo della Sofferenza, Division of Internal Medicine and Chronobiology Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyNeurogenetics Unit, IRCCS Santa Lucia Foundation, Rome 00143, Italy; Department of Molecular Medicine, University of Pavia, via Forlanini 14, 27100 Pavia, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy; Biotechnology and Bioscience Department, Bicocca University, Piazza della Scienza 2, 20126 Milan, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy; Corresponding author.Joubert syndrome (JS) is an autosomal recessive neurodevelopmental disorder, characterized by congenital cerebellar and brainstem defects, belonging to the group of disorders known as ciliopathies, which are caused by mutations in genes encoding proteins of the primary cilium and basal body. Human induced pluripotent stem cells (hiPSCs) from a patient carrying a homozygous missense mutation (c.2168G > A) in AHI1, the first gene to be associated with JS, were produced using a virus-free protocol.http://www.sciencedirect.com/science/article/pii/S1873506119301102 |
| spellingShingle | Filomena Altieri Angela D'Anzi Francesco Martello Silvia Tardivo Iolanda Spasari Daniela Ferrari Laura Bernardini Giuseppe Lamorte Gianluigi Mazzoccoli Enza Maria Valente Angelo Luigi Vescovi Jessica Rosati Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome Stem Cell Research |
| title | Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome |
| title_full | Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome |
| title_fullStr | Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome |
| title_full_unstemmed | Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome |
| title_short | Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome |
| title_sort | production and characterization of human induced pluripotent stem cells ipsc cssi007 a 4383 from joubert syndrome |
| url | http://www.sciencedirect.com/science/article/pii/S1873506119301102 |
| work_keys_str_mv | AT filomenaaltieri productionandcharacterizationofhumaninducedpluripotentstemcellsipsccssi007a4383fromjoubertsyndrome AT angeladanzi productionandcharacterizationofhumaninducedpluripotentstemcellsipsccssi007a4383fromjoubertsyndrome AT francescomartello productionandcharacterizationofhumaninducedpluripotentstemcellsipsccssi007a4383fromjoubertsyndrome AT silviatardivo productionandcharacterizationofhumaninducedpluripotentstemcellsipsccssi007a4383fromjoubertsyndrome AT iolandaspasari productionandcharacterizationofhumaninducedpluripotentstemcellsipsccssi007a4383fromjoubertsyndrome AT danielaferrari productionandcharacterizationofhumaninducedpluripotentstemcellsipsccssi007a4383fromjoubertsyndrome AT laurabernardini productionandcharacterizationofhumaninducedpluripotentstemcellsipsccssi007a4383fromjoubertsyndrome AT giuseppelamorte productionandcharacterizationofhumaninducedpluripotentstemcellsipsccssi007a4383fromjoubertsyndrome AT gianluigimazzoccoli productionandcharacterizationofhumaninducedpluripotentstemcellsipsccssi007a4383fromjoubertsyndrome AT enzamariavalente productionandcharacterizationofhumaninducedpluripotentstemcellsipsccssi007a4383fromjoubertsyndrome AT angeloluigivescovi productionandcharacterizationofhumaninducedpluripotentstemcellsipsccssi007a4383fromjoubertsyndrome AT jessicarosati productionandcharacterizationofhumaninducedpluripotentstemcellsipsccssi007a4383fromjoubertsyndrome |