Sample information curated by ChIP-Atlas

Antigen

Antigen Class
Input control
Antigen
Input control

Cell type

Cell type Class
Blood
Cell type
GM08714
Tissue
blood
Lineage
mesoderm
Description
lymphoblastoid cell line, Instability of heterochromatin of chromosomes 1, 9, and 16 with variable combined immunodeficiency; dysmorphic facial features, developmental delay, malabsorption, and recurrent infections; see GM08747 Fibroblast; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1807 (1807G>A) of the DNMT3B gene resulting in an Ala to Thr substitution at codon 603 [Ala603Thr (A603T)], the mutation occurring in a region between motifs I and IV within the catalytic domain of DNMT3B; the second allele has a G>A transition within intron 22 located 11 nucleotides 5-prime of the normal splice acceptor site [IVS22AS,G>A,-11] resulting in the generation of a novel splice acceptor site and a 9-bp insertion in the processed RNA. This results in the insertion of 3 amino acids (serine, threonine, and proline) at codon 744 (744ins3). The insertion was within the conserved region of the catalytic domain, which is likely to be disrupted by the insertion of a proline residue. This mutation was de novo.

Attributes by original data submitter

Sample

source_name
GM08714
biomaterial_provider
Coriell
lab
USC
lab description
Farnham - University of Southern California
datatype
ChipSeq
datatype description
Chromatin IP Sequencing
cell
GM08714
cell organism
human
cell description
lymphoblastoid cell line, Instability of heterochromatin of chromosomes 1, 9, and 16 with variable combined immunodeficiency; dysmorphic facial features, developmental delay, malabsorption, and recurrent infections; see GM08747 Fibroblast; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1807 (1807G>A) of the DNMT3B gene resulting in an Ala to Thr substitution at codon 603 [Ala603Thr (A603T)], the mutation occurring in a region between motifs I and IV within the catalytic domain of DNMT3B; the second allele has a G>A transition within intron 22 located 11 nucleotides 5-prime of the normal splice acceptor site [IVS22AS,G>A,-11] resulting in the generation of a novel splice acceptor site and a 9-bp insertion in the processed RNA. This results in the insertion of 3 amino acids (serine, threonine, and proline) at codon 744 (744ins3). The insertion was within the conserved region of the catalytic domain, which is likely to be disrupted by the insertion of a proline residue. This mutation was de novo.
cell lineage
mesoderm
cell sex
F
treatment
None
treatment description
No special treatment or protocol applies
antibody
Input
antibody description
Control signal which may be subtracted from experimental raw signal before peaks are called.
control
UCDavis
control description
Input library was prepared at UC Davis.
control
UCDavis
control description
Input library was prepared at UC Davis.
controlid
wgEncodeEH002870
replicate
1

Sequenced DNA Library

library_name
GSM935607: USC_ChipSeq_GM08714_Input_UCDavis
library_strategy
ChIP-Seq
library_source
GENOMIC
library_selection
ChIP

Sequencing Platform

instrument_model
Illumina Genome Analyzer

hg38

Number of total reads
52859319
Reads aligned (%)
98.9
Duplicates removed (%)
4.2
Number of peaks
1986 (qval < 1E-05)

hg19

Number of total reads
52859319
Reads aligned (%)
97.7
Duplicates removed (%)
6.3
Number of peaks
1897 (qval < 1E-05)

Base call quality data from DBCLS SRA