Name：NTCC? NA04863 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA04863
Size/Quantity數量: 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: 2 YR
Gender性別: 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其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: GBA HEXA
Disease疾病類型:
Mutations突變: ARG247TRP ASN370SER c.1274_1277dupTATC
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質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
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