Name：NTCC? NA22025 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA22025
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: 9 YR
Gender性別: Male
Description描述: PROPIONIC ACIDEMIA
Remarks: Clinically affected; failure to thrive; normal gut motility; 50% of feeding by mouth; G-tube; infrequent vomitting; seizures; began walking at 18 months of age and is still walking; language is significantly below age level; uses language assisting technology; talked at age two years; cognitive ability moderately impaired; infrequent episodes of ketoacidosis; on metabolic formula and levocarnitine; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 335 in exon 3 of the PCCB gene (c.335G>A) resulting in the substitution of aspartic acid for glycine at codon 112 [Gly112Asp (G112D)] and the second allele has a 1 bp deletion at nucleotide 1204 in exon 12 (1204delG) resulting in a frameshift and stop codon at Ala402 (Ala402fs)
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: PCCB
Disease疾病類型:
Mutations突變: 1204delG GLY112ASP
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