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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
- Source :
- Stem Cell Research, Vol 54, Iss, Pp 102424-(2021)
- Publication Year :
- 2021
- Publisher :
- Elsevier BV, 2021.
-
Abstract
- 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.
- Subjects :
- 0301 basic medicine
Heterozygote
QH301-705.5
Induced Pluripotent Stem Cells
Biology
Bone morphogenetic protein
medicine.disease_cause
03 medical and health sciences
0302 clinical medicine
medicine
Humans
Biology (General)
Induced pluripotent stem cell
Heterozygous mutation
Mutation
integumentary system
Ossification
Skeletal muscle
Cell Biology
General Medicine
medicine.disease
030104 developmental biology
medicine.anatomical_structure
Myositis Ossificans
ACVR1 Gene
Fibrodysplasia ossificans progressiva
Cancer research
medicine.symptom
Activin Receptors, Type I
030217 neurology & neurosurgery
Developmental Biology
Subjects
Details
- ISSN :
- 18735061
- Volume :
- 54
- Database :
- OpenAIRE
- Journal :
- Stem Cell Research
- Accession number :
- edsair.doi.dedup.....e3a845d93bcdc26a3e04ffcbf9d6824f
- Full Text :
- https://doi.org/10.1016/j.scr.2021.102424