GM17890
Fibroblast from Skin, Unspecified
Description:
HERMANSKY-PUDLAK SYNDROME 2; HPS2
ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-1 SUBUNIT; AP3B1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Uncertain Biochemical Etiology |
|
Biopsy Source
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
|
Race
|
Other
|
|
Ethnicity
|
CAJUN/HOUMA INDIAN/AFRICAN-AMERICAN
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
AP3B1 |
| Chromosomal Location |
Chromosome 5 |
| Allelic Variant 1 |
R509X; HERMANSKY-PUDLAK SYNDROME 2 |
| Identified Mutation |
ARG509TER |
| |
| 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 |
| |
| 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 |
| Passage Frozen |
5 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
10% |
| Percent O2 |
AMBIENT |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|