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Establishment of the iPSC line CUIMCi005-A from a patient with Stargardt disease for retinal organoid culture.
Su, Pei-Yin; Lee, Winston; Zernant, Jana; Tsang, Stephen H; Nagasaki, Takayuki; Corneo, Barbara; Allikmets, Rando.
Afiliação
  • Su PY; Department of Ophthalmology, Columbia University Irving Medical Center, NY, USA.
  • Lee W; Department of Ophthalmology, Columbia University Irving Medical Center, NY, USA; Department of Genetics & Development, Columbia University Irving Medical Center, NY, USA.
  • Zernant J; Department of Ophthalmology, Columbia University Irving Medical Center, NY, USA.
  • Tsang SH; Department of Ophthalmology, Columbia University Irving Medical Center, NY, USA; Department of Pathology & Cell Biology, Columbia University Irving Medical Center, NY, USA.
  • Nagasaki T; Department of Ophthalmology, Columbia University Irving Medical Center, NY, USA.
  • Corneo B; Columbia Stem Cell Initiative, Stem Cell Core, Columbia University Irving Medical Center, NY, USA.
  • Allikmets R; Department of Ophthalmology, Columbia University Irving Medical Center, NY, USA; Department of Pathology & Cell Biology, Columbia University Irving Medical Center, NY, USA. Electronic address: rla22@cumc.columbia.edu.
Stem Cell Res ; 65: 102973, 2022 12.
Article em En | MEDLINE | ID: mdl-36455383
Pathogenic variation in the ABCA4 gene is the underlying cause of Stargardt disease, the most common inherited retinal degeneration. We established an induced pluripotent stem cell line for retinal organoid research from a patient with mild disease features who is compound heterozygous for the frequent c.5882G>A (p.Gly1961Glu) missense variant and a c.4947delC (p.Glu1650Argfs*12) frameshift variant. Peripheral blood mononuclear cells were reprogrammed using a non-integrating Sendai virus approach. G-banded karyotyping was normal (46, XY) and mycoplasma testing was negative. Immunohistochemistry and RT-qPCR were performed to verify the expression of pluripotency and stemness markers (LIN28, NANOG, OCT4 and SOX2) and trilineage differentiation.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Células-Tronco Pluripotentes Induzidas Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Células-Tronco Pluripotentes Induzidas Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article