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Generation of an iPSC line from skin fibroblasts of a patient with Joubert syndrome carrying the homozygous loss of function variant c.787dupC in the AHI1 gene.
Serpieri, V; Orsi, A; Mazzotta, C; Cavan, S; Rossi, E; Scelsa, B; Valente, E M.
Affiliation
  • Serpieri V; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy.
  • Orsi A; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Mazzotta C; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Cavan S; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Rossi E; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Scelsa B; Unit of Pediatric Neurology, Vittore Buzzi Hospital, ASST Fatebenefratelli Sacco, Milan, Italy.
  • Valente EM; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy. Electronic address: enzamaria.valente@unipv.it.
Stem Cell Res ; 66: 103002, 2023 02.
Article in En | MEDLINE | ID: mdl-36521382
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Eye Abnormalities / Kidney Diseases, Cystic / Induced Pluripotent Stem Cells Limits: Humans Language: En Journal: Stem Cell Res Year: 2023 Document type: Article Affiliation country: Italia Country of publication: Reino Unido
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Eye Abnormalities / Kidney Diseases, Cystic / Induced Pluripotent Stem Cells Limits: Humans Language: En Journal: Stem Cell Res Year: 2023 Document type: Article Affiliation country: Italia Country of publication: Reino Unido