NTCC® NA17721 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA17721

Name：NTCC® NA17721 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA17721
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: 9 YR
Gender性别: Female
Description描述: SALLA DISEASE | SOLUTE CARRIER FAMILY 17, MEMBER 5; SLC17A5
Remarks: Clinically affected; no family history; normal newborn period; hypotonia during first months of life; ocular squint at 3 months; ataxia at 6 months; walking with aid at 3 years, later unable to walk; delayed speech, at 5 years only able to say a few words or simple sentences; severe mental retardation; urinary free sialic acid 98 micromole/mmole creatinine (control = 14); donor subject is homozygous for the Finnish founder mutations: a C-to-T transition at nucleotide 115 (115C>T) in exon 2 of the SLC17A5 gene which results in a missense mutation [ARG39CYS (R39C)].
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: SLC17A5
Disease疾病类型:
Mutations突变: ARG39CYS
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