Induced pluripotent stem cells (iPSCs) derived from a renpenning syndrome patient with c.459_462delAGAG mutation in PQBP1 (PEIi001-A).
Stem Cell Res
; 41: 101592, 2019 12.
Article
em En
| MEDLINE
| ID: mdl-31698189
ABSTRACT
The Renpenning syndrome spectrum is a rare X-linked mental retardation syndrome characterized by intellectual disability, microcephaly, low stature, lean body and hypogonadism. Mutations in the polyglutamine tract binding protein 1 (PQBP1) locus are causative for disease. Here, we describe the generation of an iPSC line from a patient mutated in the polar amino acid-rich domain of PQBP1 resulting in a C-terminal truncated protein (c.459_462 delAGAG, type p.R153fs193X).
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Sequência de Bases
/
Paralisia Cerebral
/
Deleção de Sequência
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Deficiência Intelectual Ligada ao Cromossomo X
/
Proteínas de Ligação a DNA
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Células-Tronco Pluripotentes Induzidas
Limite:
Humans
/
Male
Idioma:
En
Revista:
Stem Cell Res
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Alemanha