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...

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Autores principales: Stansfield, Ben N., Rangasamy, Sampath, Ramsey, Keri, Khanna, May, Churko, Jared M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9729447/
https://www.ncbi.nlm.nih.gov/pubmed/36257093
http://dx.doi.org/10.1016/j.scr.2022.102944
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author Stansfield, Ben N.
Rangasamy, Sampath
Ramsey, Keri
Khanna, May
Churko, Jared M.
author_facet Stansfield, Ben N.
Rangasamy, Sampath
Ramsey, Keri
Khanna, May
Churko, Jared M.
author_sort Stansfield, Ben N.
collection PubMed
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.
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spelling pubmed-97294472022-12-08 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 Stansfield, Ben N. Rangasamy, Sampath Ramsey, Keri Khanna, May Churko, Jared M. Stem Cell Res Article 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. 2022-12 2022-10-13 /pmc/articles/PMC9729447/ /pubmed/36257093 http://dx.doi.org/10.1016/j.scr.2022.102944 Text en https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) ).
spellingShingle Article
Stansfield, Ben N.
Rangasamy, Sampath
Ramsey, Keri
Khanna, May
Churko, Jared M.
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 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
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9729447/
https://www.ncbi.nlm.nih.gov/pubmed/36257093
http://dx.doi.org/10.1016/j.scr.2022.102944
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