NTCC® NA00654 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA00654

Name：NTCC® NA00654 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA00654
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: 7 YR
Gender性别: Male
Description描述: MANNOSIDOSIS, ALPHA B, LYSOSOMAL | MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MAN2B1
Remarks: Clinically affected; deficient alpha-mannosidase; Finnish; mild clinical phenotype; psychomotor retardation after age 1 year; recurring infections; hearing loss; impaired speech; coarse facial features; donor subject is a compound heterozygote: one allele has a C>T transition in exon 15 of the MAN2B1 gene resulting in the substitution of a termination signal for glutamine at codon 639 [Gln639Ter (Q639X)]; the second allele has a C>T transition at nucleotide 2248 in exon 18 (2248C>T) resulting in the substitution of tryptophan for arginine at codon 750 [Arg750Trp (R750W)]
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: MAN2B1
Disease疾病类型:
Mutations突变: ARG750TRP GLN639TER
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