Name：NTCC? NA00654 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA00654
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 7 YR
Gender性別: 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其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: MAN2B1
Disease疾病類型:
Mutations突變: ARG750TRP GLN639TER
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質(zhì)粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net