Name：NTCC? NA03124 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA03124
Size/Quantity數(shù)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 YR
Gender性別: Female
Description描述: NIEMANN-PICK DISEASE, TYPE C1; NPC1 | NPC1 GENE; NPC1
Remarks: 38% of normal sphingomyelinase activity, normal B-galactosidase activity, and impaired cholesterol esterification in fibroblasts; the donor subject is a compound heterozygote; one allele carries a pathogenic splice site mutation c.1947+5G>C (rs770321568, g.41940G>C), as well as a missense mutation c.709C>T [p.Pro237Ser (P237S); rs80358251] in exon 6 of the NPC1 gene; the second allele carries a pathogenic missense mutation c.3182T>C in exon 21 [p.Ile1061Thr (I1061T)] in a transmembrane domain; same subject as GM03123 (fibroblast) and GM25864 (stem cell).
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: NPC1
Disease疾病類型:
Mutations突變: c.1947+5G>C ILE1061THR PRO237SER
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(yīng)商:
BioVector質(zhì)粒載體菌株細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
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