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Updated: Aug 29, 2025
Generation of Defined Genomic Modifications Using CRISPR-CAS9 in Human Pluripotent Stem Cells
Published on: September 25, 2019
Generation of heterozygous SAMD9 CRISPR/Cas9-edited iPSC line (ESi086-A-3), carrying p.I1567M mutation
Joan Pera1, Julio Castaño2, Joan Casamitjana3
1Regenerative Medicine Program, Bellvitge Institute for Biomedical Research (IDIBELL) and Program for Clinical Translation of Regenerative Medicine in Catalonia (P-CMRC), 08908 L'Hospitalet de Llobregat, Spain.
Abstract:
Germline 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.
Insights
Researchers created a new human induced pluripotent stem cell model to study SAMD9 mutations in pediatric myelodysplastic syndrome (MDS). This model aids in understanding how SAMD9 mutations impact blood formation and leukemia risk.
Area of Science:
- Genetics and Stem Cell Biology
- Hematology and Oncology
Background:
- Germline SAMD9 mutations are a frequent cause of pediatric myelodysplastic syndrome (MDS).
- MDS is a clonal disorder of ineffective hematopoiesis, associated with an elevated risk of acute myeloid leukemia (AML).
- A suitable disease model for studying SAMD9 mutations in MDS is currently unavailable.
Purpose of the Study:
- To develop a novel in vitro disease model for investigating the role of SAMD9 mutations in pediatric MDS.
- To utilize CRISPR/Cas9 gene editing technology to engineer a human induced pluripotent stem cell (hiPSC) line with a specific SAMD9 mutation (p.I1567M).
Main Methods:
- Generation of a human induced pluripotent stem cell (hiPSC) line.
- Targeted gene editing using the CRISPR/Cas9 system to introduce the SAMD9 (p.I1567M) mutation.
- Characterization of the engineered hiPSC line for downstream hematopoiesis studies.
Main Results:
- Successfully generated a human induced pluripotent stem cell (hiPSC) line carrying the specific SAMD9 (p.I1567M) mutation.
- The engineered hiPSC line serves as a novel in vitro model for SAMD9-related MDS.
Conclusions:
- The developed SAMD9-mutated hiPSC line provides a valuable tool for understanding the molecular and cellular mechanisms underlying SAMD9-associated MDS.
- This model will facilitate research into the progression of MDS and the development of acute myeloid leukemia in affected children.
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