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Generation of the human induced pluripotent stem cell line (IBKMOLi003-A) from PBMCs of a vascular Ehlers-Danlos syndrome (vEDS) patient carrying the heterozygous nonsense mutation c.430C > T (p.Q105*) in the COL3A1 gene.
Stem Cell Res;
75: 103321, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38301384
2.
Generation of the human induced pluripotent stem cell line (IBKMOLi002-A) from PBMCs of a patient carrying the heterozygous L271H mutation of the voltage-gated calcium channel subunit Cav1.3-encoding CACNA1D gene.
Stem Cell Res;
61: 102784, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35453044
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