NTCC® NA17890 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA17890

Name：NTCC® NA17890 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA17890
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 4 YR
Gender性别: Male
Description描述: HERMANSKY-PUDLAK SYNDROME 2; HPS2 | ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-1 SUBUNIT; AP3B1
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)].
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: AP3B1
Disease疾病类型:
Mutations突变: ARG509TER GLU659TER
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
References参考文献:

Supplier供应商:
BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net