Name：NTCC? NA02135 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA02135
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: 34 YR
Gender性別: Female
Description描述: PORPHYRIA, ACUTE INTERMITTENT | HYDROXYMETHYLBILANE SYNTHASE; HMBS
Remarks: See GM00939 Fibroblast; deficient uroporphyrinogen-I synthetase; active AIP; Neutral Alpha-glucosidase C phenotype=1; positive family history; donor subject is heterozygous for a C>T transition at nucleotide 583 in exon 10 of the HMBS gene (583C>T) resulting in the substitution of cysteine for arginine at codon 195 [Arg195Cys (R195C)]
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來(lái)源: LCL
Gene: HMBS
Disease疾病類型:
Mutations突變: ARG195CYS
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