Generation of an iPSC line from a Pontocerebellar Hypoplasia 1B patient harboring a homozygous c.395 A > C mutation in EXOSC3 along with a family matched control
Pontocerebellar Hypoplasia 1B (PCH1B) is a severe autosomal recessive neurological disorder that is associated with mutations in the exosome complex component RRP40 (EXOSC3) gene. We generated and characterized an iPSC line from an individual with PCH1B that harbors a recessive homozygous c.395 A &g...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2022-12-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506122002938 |
| _version_ | 1811190853902794752 |
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| author | Ben N. Stansfield Sampath Rangasamy Keri Ramsey May Khanna Jared M. Churko |
| author_facet | Ben N. Stansfield Sampath Rangasamy Keri Ramsey May Khanna Jared M. Churko |
| author_sort | Ben N. Stansfield |
| collection | DOAJ |
| description | Pontocerebellar Hypoplasia 1B (PCH1B) is a severe autosomal recessive neurological disorder that is associated with mutations in the exosome complex component RRP40 (EXOSC3) gene. We generated and characterized an iPSC line from an individual with PCH1B that harbors a recessive homozygous c.395 A > C mutation in EXOSC3 and a family matched control from the probands unaffected mother. Each iPSC line presents with normal morphology and karyotype and express high levels of pluripotent markers. UAZTi009-A and UAZTi011-A are capable of directed differentiation and can be used as a vital experimental tool to study the development of PCH1B. |
| first_indexed | 2024-04-11T14:56:19Z |
| format | Article |
| id | doaj.art-93233c957353401b8db66d295f7fa7eb |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-04-11T14:56:19Z |
| publishDate | 2022-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-93233c957353401b8db66d295f7fa7eb2022-12-22T04:17:15ZengElsevierStem Cell Research1873-50612022-12-0165102944Generation of an iPSC line from a Pontocerebellar Hypoplasia 1B patient harboring a homozygous c.395 A > C mutation in EXOSC3 along with a family matched controlBen N. Stansfield0Sampath Rangasamy1Keri Ramsey2May Khanna3Jared M. Churko4Department of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ, USA; Sarver Heart Center, University of Arizona, Tucson, AZ, USA; Department of Physiology, University of Arizona Health Sciences, Tucson, AZ 85724, USATGen, Phoenix, AZ 85004, USATGen, Phoenix, AZ 85004, USADepartment of Pharmacology, College of Medicine, University of Arizona, Tucson, AZ 85724, USA; Center for Innovation in Brain Science, Tucson, AZ 85721, USADepartment of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ, USA; Sarver Heart Center, University of Arizona, Tucson, AZ, USA; Department of Physiology, University of Arizona Health Sciences, Tucson, AZ 85724, USA; Center for Innovation in Brain Science, Tucson, AZ 85721, USA; Corresponding author.Pontocerebellar Hypoplasia 1B (PCH1B) is a severe autosomal recessive neurological disorder that is associated with mutations in the exosome complex component RRP40 (EXOSC3) gene. We generated and characterized an iPSC line from an individual with PCH1B that harbors a recessive homozygous c.395 A > C mutation in EXOSC3 and a family matched control from the probands unaffected mother. Each iPSC line presents with normal morphology and karyotype and express high levels of pluripotent markers. UAZTi009-A and UAZTi011-A are capable of directed differentiation and can be used as a vital experimental tool to study the development of PCH1B.http://www.sciencedirect.com/science/article/pii/S1873506122002938 |
| spellingShingle | Ben N. Stansfield Sampath Rangasamy Keri Ramsey May Khanna Jared M. Churko Generation of an iPSC line from a Pontocerebellar Hypoplasia 1B patient harboring a homozygous c.395 A > C mutation in EXOSC3 along with a family matched control Stem Cell Research |
| title | Generation of an iPSC line from a Pontocerebellar Hypoplasia 1B patient harboring a homozygous c.395 A > C mutation in EXOSC3 along with a family matched control |
| title_full | Generation of an iPSC line from a Pontocerebellar Hypoplasia 1B patient harboring a homozygous c.395 A > C mutation in EXOSC3 along with a family matched control |
| title_fullStr | Generation of an iPSC line from a Pontocerebellar Hypoplasia 1B patient harboring a homozygous c.395 A > C mutation in EXOSC3 along with a family matched control |
| title_full_unstemmed | Generation of an iPSC line from a Pontocerebellar Hypoplasia 1B patient harboring a homozygous c.395 A > C mutation in EXOSC3 along with a family matched control |
| title_short | Generation of an iPSC line from a Pontocerebellar Hypoplasia 1B patient harboring a homozygous c.395 A > C mutation in EXOSC3 along with a family matched control |
| title_sort | generation of an ipsc line from a pontocerebellar hypoplasia 1b patient harboring a homozygous c 395 a c mutation in exosc3 along with a family matched control |
| url | http://www.sciencedirect.com/science/article/pii/S1873506122002938 |
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