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Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene
- Source :
- Biblos-e Archivo. Repositorio Institucional de la UAM, instname, Stem Cell Research, Vol 31, Iss, Pp 152-156 (2018), Digital.CSIC. Repositorio Institucional del CSIC
- Publication Year :
- 2018
- Publisher :
- Elsevier, 2018.
-
Abstract
- A human iPSC line, IISHDOi004-A, from fibroblasts obtained from a patient with Usher syndrome, harboring a homozygous mutation in the USH2A gene (c.2276G>T; p.Cys759Phe) has been generated. Reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc were delivered using Sendai virus.<br />This work was supported by grants from: 1) the “Fondo de Investigación Sanitaria, Instituto de Salud Carlos III cofunded by FEDER Funds”: PI10/0703, PI13/00556 and PI16/00789 to RG, PI15/00484 to MEG and PI16/0425 to CA. 2) “Centro de Investigación Biomédica en Red en Enfermedades Raras” (CIBERER): grants 13-717/132.05 and ER16P3AC717 to RG. 3) “Comunidad Autónoma de Madrid” (grant number S2010/BMD-2402 to RG) and 4) FUNDALUCE 2015 to CA. MdC.O-C and F.Z-D receive grant support from the Ministerio de Educación, Cultura y Deporte (FPU13/00544 and FPU16/03895). MEG is supported by a “Miguel Servet” contract (CP16/00046) from Instituto de Salud Carlos III and FEDER Funds. LG is supported by a “Rio Hortega” contract (16/00126) from Instituto de Salud Carlos III and FEDER Funds.
- Subjects :
- 0301 basic medicine
Usher syndrome
viruses
Induced Pluripotent Stem Cells
Cell Line
Human iPSC line
Kruppel-Like Factor 4
03 medical and health sciences
SOX2
stomatognathic system
Mutation in the USH2A
medicine
otorhinolaryngologic diseases
Humans
lcsh:QH301-705.5
Gene
Genetics
Extracellular Matrix Proteins
biology
Cell Biology
General Medicine
Fibroblasts
medicine.disease
biology.organism_classification
Biología y Biomedicina / Biología
Sendai virus
030104 developmental biology
lcsh:Biology (General)
Cell culture
KLF4
Mutation
Mutation (genetic algorithm)
embryonic structures
Usher Syndromes
Reprogramming
Developmental Biology
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Biblos-e Archivo. Repositorio Institucional de la UAM, instname, Stem Cell Research, Vol 31, Iss, Pp 152-156 (2018), Digital.CSIC. Repositorio Institucional del CSIC
- Accession number :
- edsair.doi.dedup.....4dd045173b69e1682dfe240447cb5c41