NA17890
DNA from Fibroblast
Description:
HERMANSKY-PUDLAK SYNDROME 2; HPS2
ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-1 SUBUNIT; AP3B1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Uncertain Biochemical Etiology |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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Other
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Ethnicity
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CAJUN/HOUMA INDIAN/AFRICAN-AMERICAN
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
AP3B1 |
| Chromosomal Location |
Chromosome 5 |
| Allelic Variant 1 |
R509X; HERMANSKY-PUDLAK SYNDROME 2 |
| Identified Mutation |
ARG509TER |
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| Gene |
AP3B1 |
| Chromosomal Location |
Chromosome 5 |
| Allelic Variant 2 |
E659X; HERMANSKY-PUDLAK SYNDROME 2 |
| Identified Mutation |
GLU659TER |
| Remarks |
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)]. |
| Korogi Y, Gotoh S, Ikeo S, Yamamoto Y, Sone N, Tamai K, Konishi S, Nagasaki T, Matsumoto H, Ito I, Chen-Yoshikawa TF, Date H, Hagiwara M, Asaka I, Hotta A, Mishima M, Hirai T, In Vitro Disease Modeling of Hermansky-Pudlak Syndrome Type 2 Using Human Induced Pluripotent Stem Cell-Derived Alveolar Organoids Stem cell reports12:431-440 2018 |
| PubMed ID: 30773483 |
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| Huizing M, Scher CD, Strovel E, Fitzpatrick DL, Hartnell LM, Anikster Y, Gahl WA, Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatr Res51(2):150-8 2002 |
| PubMed ID: 11809908 |
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