NTCC® NA06330 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA06330

Name：NTCC® NA06330 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA06330
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: 27 YR
Gender性别: Female
Description描述: GYRATE ATROPHY OF CHOROID AND RETINA; GACR
Remarks: Elevated serum & urine ornithine levels; progressive blindness; no sign of neurologic involvement; severe constrict of visual fields; flat ERG; neg family history; < 5% of norm ornithine aminotransferase act; unrespon in vitro to Vit B6; donor subject is homozygous for a C>T transition at nucleotide 677 (677C>T) in exon 7 of the OAT gene which converts alanine 226 (GCG) to valine (GTG) [Ala226Val (A226V)]
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: OAT
Disease疾病类型:
Mutations突变: ALA226VAL
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