Name：NTCC? NA18397 Fibroblast DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA18397
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物種來源:
Age年齡:
Gender性別: Male
Description描述: NIEMANN-PICK DISEASE, TYPE C1; NPC1 | NPC1 GENE; NPC1
Remarks: Clinically affected; fibroblasts showed 127 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 a substitution (A>G) at nucleotide 3467 (c.3467A>G) in exon 22, resulting in a missense mutation at codon 1156 [N1156S (ASN1156SER)]; allele 2 carries a substitution (A>G) at nucleotide 3557 (c.3557A>G) in exon 23, resulting in a missense mutation at codon 1186 [R1186H(ARG1186HIS)]; the first nucleotide of the initiating MET codon is numbered +1. This fibroblast is a characteristically poor grower and will only be shipped frozen; requires particular care during growth; the recommended seeding density is 15,000 to 20,000 cells per cm2.
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: NPC1
Disease疾病類型:
Mutations突變: ARG1186HIS ASN1156SER
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
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