Generation of Best disease-derived induced pluripotent stem cell line (FRIMOi006-A) carrying a novel dominant mutation in BEST1 gene

Generation of Best disease-derived induced pluripotent stem cell line (FRIMOi006-A) carrying a novel dominant mutation in BEST1 gene

Best disease, also known as Best vitelliform macular dystrophy, is an autosomal dominant form of macular degeneration. Here, we have generated an induced pluripotent stem cell (iPSC) line derived from a Best disease patient carrying a new dominant mutation in the BEST1 gene. Skin fibroblasts were re...

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Main Authors: Judit Domingo-Prim, Marina Riera, Víctor Abad-Morales, Sheila Ruiz-Nogales, Borja Corcostegui, Esther Pomares
Format: Article
Language:English
Published: Elsevier 2019-10-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506119302004
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spelling doaj-8b3b5105d92048eba75d69621c8ddd4b2020-11-25T01:16:24ZengElsevierStem Cell Research1873-50612019-10-0140Generation of Best disease-derived induced pluripotent stem cell line (FRIMOi006-A) carrying a novel dominant mutation in BEST1 geneJudit Domingo-Prim0Marina Riera1Víctor Abad-Morales2Sheila Ruiz-Nogales3Borja Corcostegui4Esther Pomares5Fundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Genètica, Institut de Microcirurgia Ocular (IMO), Barcelona, SpainFundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Genètica, Institut de Microcirurgia Ocular (IMO), Barcelona, SpainFundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Genètica, Institut de Microcirurgia Ocular (IMO), Barcelona, SpainFundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Genètica, Institut de Microcirurgia Ocular (IMO), Barcelona, SpainFundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Retina, Institut de Microcirurgia Ocular (IMO), Barcelona, SpainFundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Genètica, Institut de Microcirurgia Ocular (IMO), Barcelona, Spain; Corresponding author at: C/ Josep Mª Lladó, 3, 08035 Barcelona, Spain.Best disease, also known as Best vitelliform macular dystrophy, is an autosomal dominant form of macular degeneration. Here, we have generated an induced pluripotent stem cell (iPSC) line derived from a Best disease patient carrying a new dominant mutation in the BEST1 gene. Skin fibroblasts were reprogrammed to iPSCs by the non-integrative Sendai-virus method. The iPSC line has been characterized preserving the BEST1 mutation, expressing the pluripotency markers and being capable to differentiate to endoderm, mesoderm and ectoderm in vitro.http://www.sciencedirect.com/science/article/pii/S1873506119302004
collection DOAJ
language English
format Article
sources DOAJ
author Judit Domingo-Prim
Marina Riera
Víctor Abad-Morales
Sheila Ruiz-Nogales
Borja Corcostegui
Esther Pomares
spellingShingle Judit Domingo-Prim
Marina Riera
Víctor Abad-Morales
Sheila Ruiz-Nogales
Borja Corcostegui
Esther Pomares
Generation of Best disease-derived induced pluripotent stem cell line (FRIMOi006-A) carrying a novel dominant mutation in BEST1 gene
Stem Cell Research
author_facet Judit Domingo-Prim
Marina Riera
Víctor Abad-Morales
Sheila Ruiz-Nogales
Borja Corcostegui
Esther Pomares
author_sort Judit Domingo-Prim
title Generation of Best disease-derived induced pluripotent stem cell line (FRIMOi006-A) carrying a novel dominant mutation in BEST1 gene
title_short Generation of Best disease-derived induced pluripotent stem cell line (FRIMOi006-A) carrying a novel dominant mutation in BEST1 gene
title_full Generation of Best disease-derived induced pluripotent stem cell line (FRIMOi006-A) carrying a novel dominant mutation in BEST1 gene
title_fullStr Generation of Best disease-derived induced pluripotent stem cell line (FRIMOi006-A) carrying a novel dominant mutation in BEST1 gene
title_full_unstemmed Generation of Best disease-derived induced pluripotent stem cell line (FRIMOi006-A) carrying a novel dominant mutation in BEST1 gene
title_sort generation of best disease-derived induced pluripotent stem cell line (frimoi006-a) carrying a novel dominant mutation in best1 gene
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2019-10-01
description Best disease, also known as Best vitelliform macular dystrophy, is an autosomal dominant form of macular degeneration. Here, we have generated an induced pluripotent stem cell (iPSC) line derived from a Best disease patient carrying a new dominant mutation in the BEST1 gene. Skin fibroblasts were reprogrammed to iPSCs by the non-integrative Sendai-virus method. The iPSC line has been characterized preserving the BEST1 mutation, expressing the pluripotency markers and being capable to differentiate to endoderm, mesoderm and ectoderm in vitro.
url http://www.sciencedirect.com/science/article/pii/S1873506119302004
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