Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology

Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology

Propionic acidemia (PA) is an inherited metabolic disease caused by mutations in the PCCA and PCCB genes. We have previously generated an induced pluripotent stem cell (iPSC) line (UAMi004-A) from a PA patient with the c.1218_1231del14ins12 (p.Gly407Argfs*14) homozygous mutation in the PCCB gene. He...

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Main Authors: Alejandro Fulgencio-Covián, Mar Álvarez, Barry A. Pepers, Arístides López-Márquez, Magdalena Ugarte, Belén Pérez, Willeke M.C. van Roon-Mom, Lourdes R. Desviat, Eva Richard
Format: Article
Language:English
Published: Elsevier 2020-12-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506120303561
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spelling doaj-0cddeb393538497a9576e906658518a12020-12-19T05:04:58ZengElsevierStem Cell Research1873-50612020-12-0149102055Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technologyAlejandro Fulgencio-Covián0Mar Álvarez1Barry A. Pepers2Arístides López-Márquez3Magdalena Ugarte4Belén Pérez5Willeke M.C. van Roon-Mom6Lourdes R. Desviat7Eva Richard8Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, SpainCentro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Madrid, SpainDepartment of Human Genetics, LUMC, Leiden, the NetherlandsCentro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain; Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, SpainCentro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, SpainCentro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, SpainDepartment of Human Genetics, LUMC, Leiden, the NetherlandsCentro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain; Corresponding authors at: Centro de Biología Molecular Severo Ochoa UAM-CSIC, Nicolás Cabrera 1, Universidad Autónoma Madrid, 28049 Madrid, Spain.Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain; Corresponding authors at: Centro de Biología Molecular Severo Ochoa UAM-CSIC, Nicolás Cabrera 1, Universidad Autónoma Madrid, 28049 Madrid, Spain.Propionic acidemia (PA) is an inherited metabolic disease caused by mutations in the PCCA and PCCB genes. We have previously generated an induced pluripotent stem cell (iPSC) line (UAMi004-A) from a PA patient with the c.1218_1231del14ins12 (p.Gly407Argfs*14) homozygous mutation in the PCCB gene. Here, we report the generation of the isogenic control in which the mutation was genetically corrected using CRISPR/Cas9 technology. Off-target editing presence was excluded and the iPSCs had typical embryonic stem cell-like morphology and normal karyotype that expressed pluripotency markers and maintained their in vitro differentiation potential.http://www.sciencedirect.com/science/article/pii/S1873506120303561
collection DOAJ
language English
format Article
sources DOAJ
author Alejandro Fulgencio-Covián
Mar Álvarez
Barry A. Pepers
Arístides López-Márquez
Magdalena Ugarte
Belén Pérez
Willeke M.C. van Roon-Mom
Lourdes R. Desviat
Eva Richard
spellingShingle Alejandro Fulgencio-Covián
Mar Álvarez
Barry A. Pepers
Arístides López-Márquez
Magdalena Ugarte
Belén Pérez
Willeke M.C. van Roon-Mom
Lourdes R. Desviat
Eva Richard
Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology
Stem Cell Research
author_facet Alejandro Fulgencio-Covián
Mar Álvarez
Barry A. Pepers
Arístides López-Márquez
Magdalena Ugarte
Belén Pérez
Willeke M.C. van Roon-Mom
Lourdes R. Desviat
Eva Richard
author_sort Alejandro Fulgencio-Covián
title Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology
title_short Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology
title_full Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology
title_fullStr Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology
title_full_unstemmed Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology
title_sort generation of a gene-corrected human isogenic line (uami006-a) from propionic acidemia patient ipsc with an homozygous mutation in the pccb gene using crispr/cas9 technology
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2020-12-01
description Propionic acidemia (PA) is an inherited metabolic disease caused by mutations in the PCCA and PCCB genes. We have previously generated an induced pluripotent stem cell (iPSC) line (UAMi004-A) from a PA patient with the c.1218_1231del14ins12 (p.Gly407Argfs*14) homozygous mutation in the PCCB gene. Here, we report the generation of the isogenic control in which the mutation was genetically corrected using CRISPR/Cas9 technology. Off-target editing presence was excluded and the iPSCs had typical embryonic stem cell-like morphology and normal karyotype that expressed pluripotency markers and maintained their in vitro differentiation potential.
url http://www.sciencedirect.com/science/article/pii/S1873506120303561
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