Establishment of an induced pluripotent stem cell line from a Antley-Bixler Syndrome (ABS) patient with the homozygote mutation p.R457H (c.1370G>A) in POR gene.
Stem Cell Res
; 52: 102261, 2021 04.
Article
em En
| MEDLINE
| ID: mdl-33631521
ABSTRACT
Antley-Bixler syndrome (ABS) is a rare inherited autosome recessive malformation syndrome, which can be caused by the gene mutations of cytochrome P450 oxidoreductase (POR). In this study, the urine cells (UCs) derived from a 5-year-old female ABS patient with the homozygote POR gene mutation p.R457H (c.1825C>G) were reprogramming into induced pluripotent stem cells (iPSCs) named WMUi018-A using a commercial Sendai virus reprogramming kit. The pluripotent markers of stem cells like OCT4 and SOX2 can be positively expressed in this iPSC line, which can be induced to differentiate into three germ layers in vitro and maintain a stable karyotype (46, XX).
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
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Fenótipo de Síndrome de Antley-Bixler
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Células-Tronco Pluripotentes Induzidas
Limite:
Child, preschool
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Female
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Humans
Idioma:
En
Revista:
Stem Cell Res
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
China