NTCC® NA05003 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA05003

Name：NTCC® NA05003 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA05003
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: 18 YR
Gender性别: Male
Description描述: HARTNUP DISORDER | SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 19; SLC6A19
Remarks: Mental retardation and typical aminoaciduria; defective intestinal transport of tryptophan and phenylalanine; similarly affected brother; donor subject is homozygous for a G>A transition at nucleotide 517 in exon 4 of the SLC6A19 gene (517G>A)resulting in the substitution of asparagine for aspartic acid at codon 173 [Asp173Asn (D173N)]
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: SLC6A19
Disease疾病类型:
Mutations突变: ASP173ASN
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