Name：NTCC? NA20945 Fibroblast DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA20945
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: 7 YR
Gender性別: Female
Description描述: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia | PHOSPHOMANNOMUTASE 2; PMM2
Remarks: Clinically affected; abnormal isoelectric focusing pattern of serum transferrin; mild phenotype; donor subject is a compound heterozygote: one allele has two nucleotides mutated in exon 2 of the PMM2 gene [95TA>GC] resulting in a substitution of arginine for leucine at codon 32 [Leu32Arg (L32R)] and a second allele has a T>C transition at nucleotide 470 in exon 6 of the PMM2 gene [470T>C] resulting in a substitution of serine for phenylalanine at codon 157 [Phe157Ser (F157S)].
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: Fibroblast
Source組織來(lái)源: Fibroblast
Gene: PMM2
Disease疾病類型:
Mutations突變: LEU32ARG PHE157SER
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
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net