Name：NTCC? NA03329 Fibroblast DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA03329
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來(lái)源:
Age年齡: 2 YR
Gender性別: Male
Description描述: GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA
Remarks: Infantile onset; normal size (3.6 kb) and amount of mRNA for GAA, GAA protein detected by antibody, but deficient acid-alpha-1,4 glucosidase (0.35%); hypotonia; donor subject is a compound heterozygote with only one allele expressed: allele one carries a A>G transition at nucleotide 1555 (1555A>G) in exon 11 which results in a substitution of valine for methionine at codon 519 [Met519Val (M519V)]; allele two (the silent allele) contains a G>A transition at the first nucleotide of intron 8 (IVS8+1G>A) of the GAA gene which results in a splicing defect at the 5錕?donor site; this rare allele was also found in GM12932 and 18 polymorphisms in the GAA gene were identical in both lines suggesting common ancestry (Raben et al. Hum. Mutat. 13:83-84 (1999)].
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: Fibroblast
Source組織來(lái)源: Fibroblast
Gene: GAA
Disease疾病類型:
Mutations突變: IVS8+1G>A MET519VAL
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻(xiàn):

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
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