NTCC® NA00852 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA00852
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- 货 号:NTCC®-Coriell NA00852
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Name:NTCC® NA00852 Fibroblast DNACategory分类:DNACat#货号:NTCC®-Coriell NA00852Size/Quantity数量: 1 VialBiosafety Level生物安全级别:1Shipping Info运输方式: RTStorage储存方式: 4CSpecies物种来源: Age年龄: 20 YRGender性别: MaleDescription描述: GAUCHER DISEASE, TYPE I | GLUCOSIDASE, ACID BETA; GBARemarks: 6% of control fibroblast glucocerebrosidase activity; donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 1226 in exon 9 of the GBA gene [1226A>G] resulting in a subtitution of serine for asparagine at codon 370 [Asn370Ser (N370S)] and a second allele has an insertion of a second guanine at cDNA nucleotide 84 [84_85insG, 84GG] (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:
FibroblastSource组织来源: FibroblastGene: GBA Disease疾病类型: Mutations突变: 1-BP INS, 84G ASN370SERKaryotypes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
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