Name：NTCC? NA12217 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA12217
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運(yùn)輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 3 YR
Gender性別: Male
Description描述: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
Remarks: Simple virilizing 21-hydroxylase deficiency; elevated 17-hydroxyprogesterone level; pubic hair since age 12 months; accelerated growth; bone age is twice chronological age; acne; donor subject is a compound heterozygote: one allele has a deletion of 30 Kb in exon 3-4 of the CYP21A2 gene leaving behind the C4A gene and a single CYP21P-like gene - the deletion prevents the synthesis of the protein and destroys all enzymatic activity; the second allele has codon 172 of the mutant gene changed from ATC, encoding isoleucine, to AAC, encoding asparagine [Ile172Asn (I172N)]
Alternate IDs其他編號:
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: CYP21A2
Disease疾病類型:
Mutations突變: 30-KB DEL ILE172ASN
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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