Generation of an induced pluripotent stem cell line (TRNDi012-B) from Fibrodysplasia Ossificans Progressiva (FOP) patient carrying a heterozygous mutation c. 617G > A in the ACVR1 gene

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of progressive ossification of skeletal muscle, fascia, tendons, and ligaments. Most FOP cases are caused by a heterozygous c. 617G > A mutation in the ACVR1 gene which encodes a gain-of-function of bone morphogenet...

Descripción completa

Detalles Bibliográficos
Autores principales: Huang, Xiuli, Roeder, Amanda, Li, Rong, Beers, Jeanette, Liu, Chengyu, Zou, Jizhong, Yu, Paul B., Zheng, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9428929/
https://www.ncbi.nlm.nih.gov/pubmed/34139597
http://dx.doi.org/10.1016/j.scr.2021.102424
_version_ 1784779275869618176
author Huang, Xiuli
Roeder, Amanda
Li, Rong
Beers, Jeanette
Liu, Chengyu
Zou, Jizhong
Yu, Paul B.
Zheng, Wei
author_facet Huang, Xiuli
Roeder, Amanda
Li, Rong
Beers, Jeanette
Liu, Chengyu
Zou, Jizhong
Yu, Paul B.
Zheng, Wei
author_sort Huang, Xiuli
collection PubMed
description Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of progressive ossification of skeletal muscle, fascia, tendons, and ligaments. Most FOP cases are caused by a heterozygous c. 617G > A mutation in the ACVR1 gene which encodes a gain-of-function of bone morphogenetic protein type I receptor. A human induced pluripotent stem cell (iPSC) line was generated from the dermal skin fibroblasts of a FOP patient who carries the c. 617G > A mutation in the ACVR1 gene. This iPSC line provides an attractive resource for FOP disease modeling.
format Online
Article
Text
id pubmed-9428929
institution National Center for Biotechnology Information
language English
publishDate 2021
record_format MEDLINE/PubMed
spelling pubmed-94289292022-08-31 Generation of an induced pluripotent stem cell line (TRNDi012-B) from Fibrodysplasia Ossificans Progressiva (FOP) patient carrying a heterozygous mutation c. 617G > A in the ACVR1 gene Huang, Xiuli Roeder, Amanda Li, Rong Beers, Jeanette Liu, Chengyu Zou, Jizhong Yu, Paul B. Zheng, Wei Stem Cell Res Article Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of progressive ossification of skeletal muscle, fascia, tendons, and ligaments. Most FOP cases are caused by a heterozygous c. 617G > A mutation in the ACVR1 gene which encodes a gain-of-function of bone morphogenetic protein type I receptor. A human induced pluripotent stem cell (iPSC) line was generated from the dermal skin fibroblasts of a FOP patient who carries the c. 617G > A mutation in the ACVR1 gene. This iPSC line provides an attractive resource for FOP disease modeling. 2021-07 2021-06-07 /pmc/articles/PMC9428929/ /pubmed/34139597 http://dx.doi.org/10.1016/j.scr.2021.102424 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
Huang, Xiuli
Roeder, Amanda
Li, Rong
Beers, Jeanette
Liu, Chengyu
Zou, Jizhong
Yu, Paul B.
Zheng, Wei
Generation of an induced pluripotent stem cell line (TRNDi012-B) from Fibrodysplasia Ossificans Progressiva (FOP) patient carrying a heterozygous mutation c. 617G > A in the ACVR1 gene
title Generation of an induced pluripotent stem cell line (TRNDi012-B) from Fibrodysplasia Ossificans Progressiva (FOP) patient carrying a heterozygous mutation c. 617G > A in the ACVR1 gene
title_full Generation of an induced pluripotent stem cell line (TRNDi012-B) from Fibrodysplasia Ossificans Progressiva (FOP) patient carrying a heterozygous mutation c. 617G > A in the ACVR1 gene
title_fullStr Generation of an induced pluripotent stem cell line (TRNDi012-B) from Fibrodysplasia Ossificans Progressiva (FOP) patient carrying a heterozygous mutation c. 617G > A in the ACVR1 gene
title_full_unstemmed Generation of an induced pluripotent stem cell line (TRNDi012-B) from Fibrodysplasia Ossificans Progressiva (FOP) patient carrying a heterozygous mutation c. 617G > A in the ACVR1 gene
title_short Generation of an induced pluripotent stem cell line (TRNDi012-B) from Fibrodysplasia Ossificans Progressiva (FOP) patient carrying a heterozygous mutation c. 617G > A in the ACVR1 gene
title_sort generation of an induced pluripotent stem cell line (trndi012-b) from fibrodysplasia ossificans progressiva (fop) patient carrying a heterozygous mutation c. 617g > a in the acvr1 gene
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9428929/
https://www.ncbi.nlm.nih.gov/pubmed/34139597
http://dx.doi.org/10.1016/j.scr.2021.102424
work_keys_str_mv AT huangxiuli generationofaninducedpluripotentstemcelllinetrndi012bfromfibrodysplasiaossificansprogressivafoppatientcarryingaheterozygousmutationc617gaintheacvr1gene
AT roederamanda generationofaninducedpluripotentstemcelllinetrndi012bfromfibrodysplasiaossificansprogressivafoppatientcarryingaheterozygousmutationc617gaintheacvr1gene
AT lirong generationofaninducedpluripotentstemcelllinetrndi012bfromfibrodysplasiaossificansprogressivafoppatientcarryingaheterozygousmutationc617gaintheacvr1gene
AT beersjeanette generationofaninducedpluripotentstemcelllinetrndi012bfromfibrodysplasiaossificansprogressivafoppatientcarryingaheterozygousmutationc617gaintheacvr1gene
AT liuchengyu generationofaninducedpluripotentstemcelllinetrndi012bfromfibrodysplasiaossificansprogressivafoppatientcarryingaheterozygousmutationc617gaintheacvr1gene
AT zoujizhong generationofaninducedpluripotentstemcelllinetrndi012bfromfibrodysplasiaossificansprogressivafoppatientcarryingaheterozygousmutationc617gaintheacvr1gene
AT yupaulb generationofaninducedpluripotentstemcelllinetrndi012bfromfibrodysplasiaossificansprogressivafoppatientcarryingaheterozygousmutationc617gaintheacvr1gene
AT zhengwei generationofaninducedpluripotentstemcelllinetrndi012bfromfibrodysplasiaossificansprogressivafoppatientcarryingaheterozygousmutationc617gaintheacvr1gene

Ejemplares similares