NTCC® NA04863 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA04863

Name：NTCC® NA04863 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA04863
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: 2 YR
Gender性别: Male
Description描述: TAY-SACHS DISEASE; TSD | HEXOSAMINIDASE A; HEXA | GLUCOSIDASE, ACID BETA; GBA
Remarks: Ashkenazi; clinically normal; possible variant; 25% normal hexosaminidase A in leukocytes, 9% in fibroblasts, and none in serum or plasma; both parents have heterozygous levels of hexosaminidase A; donor subject is heterozygous for a 4-bp insertion at nucleotide 1278 in exon 11 of the HEXA gene [1278insTATC] that introduces a premature termination signal in the exon resulting in deficiency of mRNA and heterozygous for a benign C>T mutation at nucleotide 739 in exon 7 (739C>T) resulting in the substitution of tryptophan for arginine at codon 247 [Arg247Trp (R247W)]; donor subject also is heterozygous for an A>G transition at nucleotide 1226 in exon 9 of the GBA gene (1226A>G) resulting in a substitution of serine for asparagine at codon 370 [Asn370Ser (N370S)] [codons are numbered from the first codon of the mature protein; the cDNA is numbered from the first initiating AUG]
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: GBA HEXA
Disease疾病类型:
Mutations突变: ARG247TRP ASN370SER c.1274_1277dupTATC
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