Generation of a human iPSC line ZZUNEUi014-A from a patient with antithrombin deficiency caused by mutation in SERPINC1 gene.
Stem Cell Res
; 59: 102646, 2022 Mar.
Article
em En
| MEDLINE
| ID: mdl-34973562
ABSTRACT
Inherited antithrombin (AT) deficiency is an autosomal dominant disorder associated with SERPINC1 mutations. In this study, we generated a human induced pluripotent stem cell (iPSC) line ZZUNEUi014-A from peripheral blood mononuclear cells of a female AT deficiency patient with the p. W27X (c. 80G > A) mutation in SERPINC1. This cell line expressed pluripotency markers, showed normal female karyotype and could differentiate into all three germ layers in vitro.
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01-internacional
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MEDLINE
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article