GM15879 female affected Ectodermal dysplasia 1, an... - BioSample - NCBI

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GM15879 female affected Ectodermal dysplasia 1, anhidrotic sample

Identifiers: BioSample: SAMN00804220; Coriell: GM15879

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	GM15879
sex	Female
cell type	B-Lymphocyte
race	Caucasian
karyotype	46;X;t(X;13)(Xpter>Xq13::13p11.2>13pter;13qter>13p11.2::Xq13>Xqter).ish t(X;13)(DXZ1+;D13Z1-;DXZ1-;D13Z1+)
age	5 YR
affected_by	Ectodermal dysplasia 1, anhidrotic
collection	NIGMS Human Genetic Cell Repository

Tags: Ectodermal dysplasia 1, anhidrotic
Translocated chromosome
ED1

Description: Hypomelanosis of Ito;clinically affected;hypotrichosis;swirls of hypopigmented skin;anhydrosis;fine;silky hair;absent teeth and small pointed incisors;saddle-nose;variable mental retardation;short stature

Submission: Coriell; 2012-03-05

Accession:: SAMN00804220
ID:: 804220

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GM15879 female affected Ectodermal dysplasia 1, anhidrotic sample
GM15879 female affected Ectodermal dysplasia 1, anhidrotic sample

biosample
OMIM links for OMIM (Select 305100) (1)
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