Generation of heterozygous SAMD9 CRISPR/Cas9-edited iPSC line (ESi086-A-3), carrying I1567M mutation

Pera, JoanCastaño, JulioCasamitjana, JoanGiorgetti, AlessandraRomero Moya, Damià2022-11-242022-11-242022-09-031873-5061https://hdl.handle.net/2445/191092Germline SAMD9 mutations are one of the most common alterations that predispose to pediatric myelodysplastic syndrome (MDS), a clonal disorder characterized by ineffective hematopoiesis, increasing the risk of developing acute myeloid leukemia (AML). Up to date, a disease model to study the role of SAMD9 mutation in MDS is still lacking. Here, we have generated a human induced pluripotent stem cell (hiPSC) line carrying SAMD9mut (p.I1567M), taking advantage of CRISPR/Cas9 system. As a result, the genetic engineered hiPSC line represent a new in vitro disease model to understand the impact of SAMD9 mutation at molecular and cellular level during hematopoiesis.6 p.application/pdfengcc-by (c) Pera, Joan et al., 2022https://creativecommons.org/licenses/by/4.0/Cèl·lules mareLeucèmia mieloideMutació (Biologia)Stem cellsMyeloid leukemiaMutation (Biology)Generation of heterozygous SAMD9 CRISPR/Cas9-edited iPSC line (ESi086-A-3), carrying I1567M mutationinfo:eu-repo/semantics/article7269642022-11-24info:eu-repo/semantics/openAccess36087523