NTCC® NA11297 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA11297

Name：NTCC® NA11297 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA11297
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 16 YR
Gender性别: Male
Description描述: ALBINISM, OCULOCUTANEOUS, TYPE 1A; OCA1A | TYROSINASE; TYR
Remarks: Type Ia; absent pigment of skin, hair, & eyes; very low vision; nystagmus; strabismus; pos fam hx for OCA on both parents sides; no tyrosinase act in scalp hairbulbs; donor subject is a compound heterozygote: one allele has a GAT (Asp)>AAT (Asn) change at codon 365 (in another numbering system this was referred to as codon 383) of the TYR gene [Asp365Asn (D365N)]; the other allele has a frameshift caused by an ACT>ACTT at codon 389
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: TYR
Disease疾病类型:
Mutations突变: 1-BP INS, T, CODON 389 ASP365ASN
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
References参考文献:

Supplier供应商:
BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net