Name：NTCC? NA18422 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA18422
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:
Gender性別: Female
Description描述: NIEMANN-PICK DISEASE, TYPE C1; NPC1 | NPC1 GENE; NPC1
Remarks: Clinically affected; fibroblasts showed 48 pmol CE/mg protein/6 hr activity in a cholesterol esterification assay [normal mean was 1855 +/- 1327 pmol CE/mg protein/6 hr, see Park et al. Hum Mut 22:313-325 (2003)]; fibroblasts were scored as npc-like in a filipin staining assay (see Park et al., 2003); a complementation test showed that the cells were type 1 (see Park et al., 2003); the donor subject is a compound heterozygote at the NPC1 gene locus: allele 1 carries an in-frame deletion (delCAT) at nucleotide 813-815 (c.813_815delCAT) in exon 6, resulting in a deletion of codon 271 [I271del (ILE271del)]; allele 2 carries a substitution (A>T) at nucleotide 2621A>T (c.2621A>T) in exon 18, resulting in a missense mutation at codon 874 [D874V (ASP874VAL)]; the first nucleotide of the initiating MET codon is numbered +1.
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: NPC1
Disease疾病類型:
Mutations突變: 813_815delCAT ASP874VAL
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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