Name：NTCC? NA12932 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA12932
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: 9 MO
Gender性別: Female
Description描述: GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA
Remarks: Cardiomegaly; muscle biopsy showed vacuolar myopathy with glycogen storage and deficient acid maltase activity; EM ultrastructure studies consistent with diagnosis; parents are GM12930 (mother) and GM12931 (father); expired at age 9 months; donor subject is a compound heterozygote: allele one has missense mutation caused by a T>C transition at nucleotide 1441 (1441T>C) in exon 10 of the GAA gene which results in a substitution of arginine for tryptophan at codon 481 [Trp481Arg (W481R)]; allele two 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 GM03329 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:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: GAA
Disease疾病類型:
Mutations突變: IVS8+1G>A TRP481ARG
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
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