euL1db - The European database of L1-HS retrotransposon insertions in humans

Description
In this study genome-wide L1 insertion profiling of 300 single neurons from cerebral cortex and caudate nucleus of three normal individuals was done, recovering >80% of germline insertions from single neurons. While authors found the somatic L1 insertions, they estimate <0.6 unique somatic insertions per neuron, and most neurons lack detectable somatic insertions, suggesting that L1 is not a major generator of neuronal diversity in cortex and caudate. Authors then genotyped single cortical cells to characterize the mosaicism of a somatic AKT3 mutation identified in a child with hemimegalencephaly. Single-neuron sequencing allows systematic assessment of genomic diversity in the human brain.

Mapped assembly	Original assembly	Browse by SRIP	Browse by MRIP
hg19_NCBI37	hg19_NCBI37	SRIP	MRIP

Sample ID	Sample name	Relationship	Clinical	Anatomopathology	Tissue	Sub Tissue	WGA	Size
602	1465_1	Multiple	Healthy	Normal	Brain	Cortex	yes	single-cell
603	4638_1	Multiple	Healthy	Normal	Brain	Caudate	yes	single-cell
604	4643_1	Multiple	Healthy	Normal	Brain	Caudate	yes	single-cell
605	1465-Cortex_Tissue_1-neuron_MDA_2	Multiple	Healthy	Normal	Brain	Cortex	yes	single-cell
606	1465-Cortex_Tissue_1-neuron_MDA_31	Multiple	Healthy	Normal	Brain	Cortex	yes	single-cell
607	4638-Caudate_Tissue_1-neuron_MDA_23	Multiple	Healthy	Normal	Brain	Caudate	yes	single-cell
608	4638-Caudate_Tissue_1-neuron_MDA_29	Multiple	Healthy	Normal	Brain	Caudate	yes	single-cell
609	4638-Caudate_Tissue_1-neuron_MDA_39	Multiple	Healthy	Normal	Brain	Caudate	yes	single-cell

Individual Name	Gender	Population	Clinical	Disease	Relationship	Father
UMB1465	Male	American_Baltimore	Healthy	unknown	Unrelated	.
UMB4638	Female	American_Baltimore	Healthy	unknown	Unrelated	.
UMB4643	Female	American_Baltimore	Healthy	unknown	Unrelated	.

euL1db The European database of L1-HS retrotransposon insertions in humans

euL1db

The European database of L1-HS retrotransposon insertions in humans