Sample 196
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
2019-03-11T12:38:31Z
External Id
SAMEA5411908
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
2019-03-11T12:38:31Z
INSDC status
public
Submitter Id
E-MTAB-7729:Sample 196
age
under 3 months
broker name
ArrayExpress
common name
human
developmental stage
infant
disease
Post Transient abnormal myelopoiesis (TAM) sample
genotype
GATA1 mutation not detected
individual
individual 69
organism part
peripheral blood
sample name
E-MTAB-7729:Sample 196
scientific_name
Homo sapiens
sex
female