RT Journal Article
T1 Generation of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 gene
A1 Cañibano-Hernández, Alberto
A1 Valdes-Sanchez, Lourdes
A1 Garcia-Delgado, Ana B.
A1 Ponte-Zúñiga, Beatriz
A1 Diaz-Corrales, Francisco J.
A1 de la Cerda, Berta
K1 Retinal dystrophies
K1 Mutations
K1 Macular dystrophy
K1 Cell line
K1 CRB1 gene
K1 Genotype
K1 Distrofias retinianas
K1 Mutación
K1 Degeneración macular
K1 Línea celular
K1 Genotipo
AB Retinal dystrophies associated to mutations in the CRB1 gene comprise a wide array of clinical presentations. A blood sample from a patient with a family history of CRB1-retinal dystrophy was used to prepare the iPSC line ESi082-A. The genotype of the donor, affected of a perifoveal-bilateral macular dystrophy includes one frameshift deletion and one hypomorphic allele. ESi082-A cell line has been characterized for pluripotency and will be used to prepare retinal cellular models to study the dysfunction leading to the disease.
PB Elsevier B.V.
SN 1873-5061
YR 2021
FD 2021-03-18
LK http://hdl.handle.net/10668/4158
UL http://hdl.handle.net/10668/4158
LA en
NO Cañibano-Hernández A, Valdes-Sanchez L, Garcia-Delgado AB, Ponte-Zúñiga B, Diaz-Corrales FJ, de la Cerda B. Generation of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 gene. Stem Cell Res. 2021 May;53:102301.
DS RISalud
RD Apr 10, 2025