Generation and characterization of human iPSC line SANi012-A from a patient with an inherited platelet disorder carrying the heterozygous ETV6 c.1105C > T variant
Germline mutations in ETV6, a transcription factor of the ETS family, are associated with autosomal dominant thrombocytopenia and an increased risk of leukemia. We generated a human iPSC line, SANi012-A, from a patient carrying a heterozygous ETV6 c.1105C > T missense mutation. Proerythroblasts f...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-09-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125001199 |
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| Summary: | Germline mutations in ETV6, a transcription factor of the ETS family, are associated with autosomal dominant thrombocytopenia and an increased risk of leukemia. We generated a human iPSC line, SANi012-A, from a patient carrying a heterozygous ETV6 c.1105C > T missense mutation. Proerythroblasts from the patient’s peripheral blood mononuclear cells (PBMCs) were reprogrammed using a lentiviral hOKSM polycistronic vector. The iPSC line showed normal karyotype and morphology, expressed pluripotency markers, and were able to differentiate into all three germ layers. |
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| ISSN: | 1873-5061 |