Name：NTCC? NA21148 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA21148
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:
Gender性別: 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其他編號:
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: ERCC3
Disease疾病類型:
Mutations突變: ARG425TER PHE99SER
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
Tel電話：400-800-2947
Email：Biovector@163.com
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