ScRNA-seq of PBMC cells sorted into CD3+/CD19+ and CD3-CD19- buckets from Omenn syndrome patients and healthy controls

ABSTRACT: In this study, we sought to extend knowledge of lymphocyte development by studying patients with classical Omenn syndrome or T-B- SCID. to gain further insight into pathomechanism, we undertook single cell studies of cryopreserved peripheral blood mononuclear cells from patients with Omenn syndrome associated with either the NUDCD3 variant (3 patients/3 samples), or pathogenic defects of RAG1 (6 patients/6 samples) or RAG2 (2 patients/2samples), and healthy controls (2 samples) for comparison.

INSTRUMENT(S): Illumina HiSeq 4000

ORGANISM(S): Homo sapiens

SUBMITTER: Elena Lukyanova 

PROVIDER: E-MTAB-12283 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress