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Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification.
Yada, Yuichiro; Kondo, Takayuki; Suga, Mika; Tsukita, Kayoko; Enami, Takako; Shibukawa, Ran; Sagara, Yukako; Okanishi, Yasue; Imamura, Keiko; Kihara, Takeshi; Inoue, Haruhisa.
Afiliación
  • Yada Y; iPSC-based Drug-Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan.
  • Kondo T; iPSC-based Drug-Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan; Medical-risk Avoidance based on iPS Cells Team, RIKEN Center for Advanced Intelligence Project (AIP), Kyoto, Japan.
  • Suga M; iPSC-based Drug-Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan.
  • Tsukita K; iPSC-based Drug-Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan.
  • Enami T; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan; Medical-risk Avoidance based on iPS Cells Team, RIKEN Center for Advanced Intelligence Project (AIP), Kyoto, Japan.
  • Shibukawa R; iPSC-based Drug-Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan.
  • Sagara Y; iPSC-based Drug-Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan.
  • Okanishi Y; iPSC-based Drug-Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan.
  • Imamura K; iPSC-based Drug-Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan; Medical-risk Avoidance based on iPS Cells Team, RIKEN Center for Advanced Intelligence Project (AIP), Kyoto, Japan.
  • Kihara T; Kobe City Medical Center West Hospital, 2-4 Ichibancho, Nagata-ku, Kobe, Japan.
  • Inoue H; iPSC-based Drug-Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan; Medical-risk Avoidance based on iPS Cells Team, RIKEN Center for Advanced Intelligence Project (AIP), Kyoto, Japan. El
Stem Cell Res ; 53: 102274, 2021 05.
Article en En | MEDLINE | ID: mdl-33714066
ABSTRACT
Idiopathic basal ganglia calcification (IBGC) is a rare neurodegenerative disease, characterized by abnormal calcium deposits in basal ganglia of the brain. The affected individuals exhibit movement disorders, and progressive deterioration of cognitive and psychiatric ability. The genetic cause of the disease is mutation in one of several different genes, SLC20A2, PDGFB, PDGFRB, XPR1 or MYORG, which inheritably or sporadically occurs. Here we generated an induced pluripotent stem cell (iPSC) line from an IBGC patient, which is likely be a powerful tool for revealing the pathomechanisms and exploring potential therapeutic candidates of IBGC.
Asunto(s)

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades de los Ganglios Basales / Enfermedades Neurodegenerativas / Células Madre Pluripotentes Inducidas Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades de los Ganglios Basales / Enfermedades Neurodegenerativas / Células Madre Pluripotentes Inducidas Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article