Name：NTCC? NA02528 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA02528
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: 8 MO
Gender性別: Male
Description描述: MUCOLIPIDOSIS IV | GLUCOSIDASE, ACID BETA; GBA | MUCOLIPIN 1; MCOLN1
Remarks: Ashkenazi; fibroblasts show grossly abnormal storage bodies and normal levels of acid hydrolases; donor subject is homozygous for an A>G transition in the acceptor splice site of the third intron of the MCOLN1 gene [IVS3-2A>G] resulting in the skipping of exon 4; donor subject is also heterozygous for an A>G transition at nucleotide 1226 in exon 9 of the GBA gene [1226A>G] resulting in a substitution of serine for asparagine at codon 370 [Asn370Ser (N370S)].
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: GBA MCOLN1
Disease疾病類型:
Mutations突變: ASN370SER IVS3AS,A>G,-2
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
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net