Generation of two induced pluripotent stem cells lines from a Mucopolysaccharydosis IIIB (MPSIIIB) patient

Autor: Sara Vallejo-Diez, Aarne Fleischer, José María Martín-Fernández, Almudena Sánchez-Gilabert, Daniel Bachiller

Publikováno v: Stem Cell Research, Vol 33, Iss , Pp 180-184 (2018)

Mucopolysaccharydosis IIIB is the second most frequent form of Sanfilippo syndrome, a degenerative, pediatric lysosomal storage disease (LSD) characterized by severe neurological disorders and death. We have generated two iPSCs lines derived from der

Externí odkaz: https://doaj.org/article/70ec5636f1584d81a1aa4dc48be0de3c

Generation of one iPSC line (IMEDEAi007-A) by Sendai Virus transduction of PBMCs from a Psoriasis donor

Autor: Sara Vallejo-Diez, Aarne Fleischer, José María Martín-Fernández, Almudena Sánchez-Gilabert, Carmelo Gómez-Martínez, Mónica Castresana, Daniel Bachiller

Publikováno v: Stem Cell Research, Vol 47, Iss , Pp 101917- (2020)

Psoriasis is a chronic inflammatory skin disease that speeds up the life cycle of skin cells, forming scales and red patches that are itchy and sometimes painful. It is a complex disease of autoimmune origin and genetic predisposition with more than

Externí odkaz: https://doaj.org/article/eccafaa7ae024c16a2dd547f6778e36f

Generation of two induced pluripotent stem cells lines from a Mucopolysaccharydosis IIIB (MPSIIIB) patient

Autor: José María Martín-Fernández, Aarne Fleischer, Almudena Sánchez-Gilabert, Sara Vallejo-Diez, Daniel Bachiller

Publikováno v: Stem Cell Research, Vol 33, Iss, Pp 180-184 (2018)

Mucopolysaccharydosis IIIB is the second most frequent form of Sanfilippo syndrome, a degenerative, pediatric lysosomal storage disease (LSD) characterized by severe neurological disorders and death. We have generated two iPSCs lines derived from der

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9072d4e883bda516b3d48a93267ed2a1
https://doi.org/10.1016/j.scr.2018.10.019

Generation of a human iPSC line (IMEDEAi008-A) derived from natural homozygous CCR5-Delta 32 PBMCs enriched in the pro-erythroblast population

Autor: Aarne Fleischer, Mónica Castresana, Daniel Bachiller, José María Martín-Fernández, Antoni Gayá, Sara Vallejo-Diez, Almudena Sánchez-Gilabert

Publikováno v: Stem Cell Research, Vol 47, Iss, Pp 101918-(2020)
Digital.CSIC. Repositorio Institucional del CSIC
instname

A 32 base pair deletion in the C-C chemokine receptor type gene (CCR5-Delta 32), the main Human Immunodeficiency Virus (HIV) co-receptor results in a non-functional protein. Individuals homozygous for the CCR5-Delta 32 mutation are resistant to HIV i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a957aca1b3f8dd0efb2a869e52333efd
https://hdl.handle.net/20.500.13003/17240

iPSC-Derived Intestinal Organoids from Cystic Fibrosis Patients Acquire CFTR Activity upon TALEN-Mediated Repair of the p.F508del Mutation

Autor: Daniel Bachiller, José Luis Pedraz, Mónica Castresana, A. Esquisabel, Aarne Fleischer, Ángel Del Pozo, Eusebio Gainza, José María Martín-Fernández, Silvia Avila, José Luis Castrillo, Sara Vallejo-Diez, Miguel Viñas, Almudena Sánchez-Gilabert

Publikováno v: Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 858-870 (2020)
Addi. Archivo Digital para la Docencia y la Investigación
instname
Digital.CSIC. Repositorio Institucional del CSIC
Molecular Therapy. Methods & Clinical Development

Cystic fibrosis (CF) is the main genetic cause of death among the Caucasian population. The disease is characterized by abnormal fluid and electrolyte mobility across secretory epithelia. The first manifestations occur within hours of birth (meconium

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f7bc20059a564dc32e43fd7355dcf0f
http://hdl.handle.net/10810/43217