Study

Whole-exome sequencing of Fanconi anemia-like inherited bone marrow failure syndrome

Study ID Alternative Stable ID Type
EGAS00001003809 Other

Study Description

We identified three fibroblast cultures derived from aplastic anemia patients in the Japanese Cancer Research Resources Bank (JCRB) Cell Bank that showed high levels of sister chromatid exchanges (SCEs) in PHA-stimulated lymphoblasts. To elucidate the genetic basis of the high SCE, we carried out whole exome sequencing of these samples. Subsequently, germline variants were analysed for these patients.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001005250
This dataset includes bam files of WES of three fibroblast samples derived from patients with aplastic anemia.
3

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