GM15753 male affected Ttd ichthyosiform erythroder... - BioSample

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Organism: Homo sapiens (human)
cellular organisms; Eukaryota; Opisthokonta; Metazoa; Eumetazoa; Bilateria; Deuterostomia; Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; Homininae; Homo

Attributes

cell line	GM15753
sex	Male
cell type	Fibroblast
race	Caucasian
age	2 YR
Gene	ERCC2
affected_by	Ttd ichthyosiform erythroderma with hair abnormality and mental and growth retardation included
Mutation	ARG616PRO
Mutation	ARG722TRP
collection	NIGMS Human Genetic Cell Repository

Tags: Ttd ichthyosiform erythroderma with hair abnormality and mental and growth retardation included
Excision-repair: complementing defective in chinese hamster 2
Trichothiodystrophy
ERCC2

Description: Cpd heterozygote;one allele carries a C>T transition at nucleotide 2242 resulting in Arg722Trp (R722W);2nd allele carries G>C transversion at nucleotide 1925 resulting in Arg616Pro (R616P) in the ERCC2 gene

GM15753 male affected Ttd ichthyosiform erythroderma with hair abnormality and m...
GM15753 male affected Ttd ichthyosiform erythroderma with hair abnormality and mental and growth retardation included sample

biosample
Viridiplantae 18S ribosomal RNA gene, internal transcribed spacer 1, 5.8S riboso...
Viridiplantae 18S ribosomal RNA gene, internal transcribed spacer 1, 5.8S ribosomal RNA gene, internal transcribed spacer 2, and 28S ribosomal RNA gene, region.
PopSet: 442572184

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