Sample 465
Homo sapiens
Protocols: Neonates with Transient Abnormal myelopoiesis (TAM) were (i) sourced within 3 months from birth (majority under 14 days of age), (ii) positive for a GATA1 variant by deep sequencing/conventional Sanger sequencing and (iii) evidence of subsequent clinical and/or GATA1 mutation resolution. ML-DS samples were allocated if ≥3 months from birth, positive for GATA1 variant (by criteria above), and ML-DS relapse if post treatment and GATA1 mutation positive. For sequential samples, “Progressive TAM” refers to samples taken 3 months from birth where neonates still had a clinical diagnosis of TAM, irrespective of treatment status. Genomic DNA was extracted from patient blood and bone marrow samples (DNeasy Blood and Tissue Kit, Qiagen, Manchester UK). Samples were re-sequenced using a panel (n=1070) of 150-210bp amplicons spanning n=62 genes (48.48 Fluidigm Access Array and BioMark; Cambourne UK).
ENA-FIRST-PUBLIC
2019-07-17T04:03:58Z
ENA-LAST-UPDATE
2019-03-11T12:38:38Z
External Id
SAMEA5412207
INSDC center name
MRC Molecular Haematology Unit Oxford Biomedical Research Centre Oxford Centre for Haematology.
INSDC first public
2019-07-17T04:03:58Z
INSDC last update
2019-03-11T12:38:38Z
INSDC status
public
Submitter Id
E-MTAB-7729:Sample 465
age
over 3 months
broker name
ArrayExpress
common name
human
developmental stage
infant
disease
Myeloid leukemia of Down syndrome (ML-DS)
genotype
GATA1 mutation detected
individual
individual 210
organism part
bone marrow
sample name
E-MTAB-7729:Sample 465
scientific_name
Homo sapiens
sex
female