GM17890 male affected HPS2 sample

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Result Filters

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	GM17890
sex	Male
cell type	Fibroblast
race	Other
ethnicity	CAJUN/HOUMA INDIAN/AFRICAN-AMERICAN
age	4 YR
Gene	AP3B1
affected_by	HPS2
Mutation	ARG509TER
Mutation	GLU659TER
collection	NIGMS Human Genetic Cell Repository

Tags: Hermansky-pudlak syndrome 2
Adaptor-related protein complex 3, beta-1 subunit
AP3B1
HPS2

Description: Clinically affected;nystagmus;lifelong reduced visual acuity;iris transillumination;ocular albinism;interstitial pulmonary fibrosis;restrictive lung disease;albinism with tanning possible;bleeding diathesis;absent dense bodies in platelets;easily bruised;epicanthal folds;slightly low set posteriorly rotated ears;retrognathia;pendular horizontal nystagmus;patient #87 in Huizing et al (Ped. Res. 51:150-158;2002);donor subject is a compound heterozygote: one allele carries a C-to-T transition at nucleotide 1578 (C1578T) in exon 15 of the AP3B1 gene which results in a nonsense mutation ARG509TER (R509X);a second allele carries a G-to-T transition at nucleotide 2028 (G2028T) in exon 18 which results in a second nonsense mutation GLU659TER (E659X) .