Name：NTCC? NA17912 Fibroblast DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA17912
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: Female
Description描述: NIEMANN-PICK DISEASE, TYPE C1; NPC1 | NPC1 GENE; NPC1
Remarks: Clinically affected; diagnosed at age 11 yr; deceased at age 19 yr; neonatal jaundice; clumsy; learning difficulties; ataxia; dysarthria; dysphagia; gastrostomy; seizures; wheelchair bound; severe movement difficulties; absent communication; tube fed; fibroblasts showed 633 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 "other"/type 1 in a filipin staining assay (see Park et al., 2003); a complementation test showed that the cells were of the "other"/type 1 complementation group (see Park et al., 2003); the donor subject is a compound heterozygote at the NPC1 gene locus: allele 1 carries a substitution (C>G) at nucleotide 3019 (c.3019C>G) in exon 20, resulting in a missense mutation at codon 1007 [ P1007A (PRO1007ALA)]; allele 2 carries a substitution (C>T) at nucleotide 3107 (c.3107C>T) in exon 21, resulting in a missense mutation at codon 1036 [T1036M (THR1036MET)]; the subject also carries the following polymporphisms: A>G at nucleotide 644 (c.644A>G) resulting in the substitution of arginine for histidine (H>R) at codon 215 [H215R (HIS215ARG)]; A>G at nucleotide IVS11+60 (IVS11+60A>G) resulting in no change in the predicted amino acid sequence; C>T at nucleotide 2793 (c.2793C>T) resulting in no change (N>N) at codon 931 [N931N (ASN931ASN)]; and T>C at nucleotide IVS19+28 (IVS19+28T>C) resulting in no change in the predicted amino acid sequence; the first nucleotide of the initiating Met codon is numbered +1.
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: PRO1007ALA THR1036MET
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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