NTCC® NA21148 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA21148

Name：NTCC® NA21148 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA21148
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:
Gender性别: Female
Description描述: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB | EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3
Remarks: Clinically affected; mild XP without Cockayne Syndrome; sun sensitivity; freckle-like pigmentation on sun exposed sites which developed in childhood; multiple basal cell carcinomas the first of which was diagnosed at age 28 years; ocular malignant melanoma at age 22 years (choroidal melanoma arising near the ciliary body and invading the iris of left eye requiring enucleation); retina was otherwise normal without pigmentary retinal degeneration; conjunctival pterygium, a vascularized mass requiring corneal grafting; progressive bilateral sensorineural deafness detected in childhood requiring hearing aids from age 17 years; normal intelligence, but difficult to access because of the hearing loss; normal stature; normal sexual development; affected sister; mother of three normal children; see GM21071 Fibroblast; donor subject is a compound heterozygote: the maternal allele has a substitution of C>T at nucleotide 1273 in exon 8 of the ERCC3 gene (c.1273C>T) resulting in an arginine at position 425 being converted to a stop codon [Arg425Ter (R425X)] and the paternal allele has a T>C change at nucleotide 296 in exon 3 (c.296T>C) resulting in phenylalanine at position 99 being converted to a serine [Phe99Ser (F99S)]
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: ERCC3
Disease疾病类型:
Mutations突变: ARG425TER PHE99SER
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