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• Identification and functional characterisation of a rare MTTP variant underlying familial non-alcoholic fatty liver disease

  We identified a rare causal variant in MTTP, c.1691T>C p.I564T (rs745447480) encoding microsomal triglyceride transfer protein (MTP) causing progressive non-alcoholic fatty liver disease with cirrhosis and hepatocellular carcinoma unrelated to metabolic syndrome, without manifestations of abetalipoproteinemia, in a four generation family with South Asian ancestry. Variant-expressing hepatocyte-like-cells (HLCs) derived from human induced pluripotent stem cells generated from homozygous donor skin fibroblasts had lower lipoprotein ApoB secretion, compared to wild type cells. Cytoplasmic triglyceride accumulation in HLCs triggered endoplasmic reticulum stress, secretion of pro-inflammatory mediators, production of reactive oxygen species, delineating the progression of disease associated with homozygosity for MTTP p.I564T

  Study EGAS00001005254

• Chip_seq_oesophageal_adenocarcinoma_

  There is complex interplay between underlying genetic sequence and epigenetic factors, however this interplay is still illusive. Massively reconstructed cancer genomes can be used in order to better understand this relationship. Six oesophageal adenocarcinoma organoids will be sequenced using long read sequencing technologies and will be profiled for a range of epigenetic marks. Combination of genetic and epigenetic data will allow the thorough characterisation of reference cancer genomes and will provide novel insights into mechanisms of gene regulation. Description: Chip-seq Sequencing of 5 patient derived organoid cell models. Each model was derived from a piece of patient tumour taken following surgical rescetion of the tumour. All model derivations took place with the CGaP facility in Sanger.

  Study EGAS00001007180

• A95623A

  Whole genome sequencing for single cells for library A95623A 1897 cells; filetype=bam

  Dataset EGAD00001007607

• A95668B

  Whole genome sequencing for single cells for library A95668B 1905 cells; filetype=bam

  Dataset EGAD00001007609

• A95720A

  Whole genome sequencing for single cells for library A95720A 1467 cells; filetype=bam

  Dataset EGAD00001007613

• A96190A

  Whole genome sequencing for single cells for library A96190A 1833 cells; filetype=bam

  Dataset EGAD00001007620

• A96233B

  Whole genome sequencing for single cells for library A96233B 1601 cells; filetype=bam

  Dataset EGAD00001007623

• A98234B

  Whole genome sequencing for single cells for library A98234B 1600 cells; filetype=bam

  Dataset EGAD00001007627

• A98304A

  Whole genome sequencing for single cells for library A98304A 1560 cells; filetype=bam

  Dataset EGAD00001007636

• A108851B

  Whole genome sequencing for single cells for library A108851B 1681 cells; filetype=bam

  Dataset EGAD00001007596