Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant.

Hey, Caroline Amalie Brunbjerg; Larsen, Lasse Jonsgaard; Tümer, Zeynep; Brøndum-Nielsen, Karen; Grønskov, Karen; Hjortshøj, Tina Duelund; Møller, Lisbeth Birk

Hey, Caroline Amalie Brunbjerg; Larsen, Lasse Jonsgaard; Tümer, Zeynep; Brøndum-Nielsen, Karen; Grønskov, Karen; Hjortshøj, Tina Duelund; Møller, Lisbeth Birk.

Afiliação

Hey CAB; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup, Denmark.
Larsen LJ; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup, Denmark.
Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, 2200N Copenhagen, Denmark.
Brøndum-Nielsen K; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup, Denmark.
Grønskov K; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup, Denmark.
Hjortshøj TD; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup, Denmark.
Møller LB; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup, Denmark. Electronic address: Lisbeth.Birk.Moeller@regionh.dk.

Stem Cell Res ; 41: 101594, 2019 12.

Article em En | MEDLINE | ID: mdl-31760295

Assuntos

Síndrome de Bardet-Biedl/genética; Síndrome de Bardet-Biedl/patologia; Diferenciação Celular; Proteínas do Citoesqueleto/genética; Fibroblastos/patologia; Células-Tronco Pluripotentes Induzidas/patologia; Mutação; Proteínas de Ligação a Fosfato/genética; Adulto; Células Cultivadas; Fibroblastos/metabolismo; Homozigoto; Humanos; Células-Tronco Pluripotentes Induzidas/metabolismo; Masculino

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diferenciação Celular / Síndrome de Bardet-Biedl / Proteínas do Citoesqueleto / Proteínas de Ligação a Fosfato / Células-Tronco Pluripotentes Induzidas / Fibroblastos / Mutação Limite: Adult / Humans / Male Idioma: En Revista: Stem Cell Res Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Dinamarca

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