NTCC® NA16633 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA16633

Name：NTCC® NA16633 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA16633
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: 7 YR
Gender性别: Male
Description描述: FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2
Remarks: Clinically affected; caf锟?au lait spots; thrombocytopenia, anemia, and leukopenia at age 5; bleeding at age 7; MMC and DEB sensitivity; chromosome instability; donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 376 of the FANCD2 gene [376A>G] resulting in a substitution of glycine for serine at codon 126 as well as abnormal splicing and the insertion of 13 bp from intron 5 into the mRNA via the utilization of a cryptic splice site [Ser126Gly (S126G) and 13-bp INS], and a second allele has a G>A transition at nucleotide 3707 of the FANCD2 gene [3707G>A] resulting in a substitution of histidine for arginine at codon 1236 [Arg1236His (R1236H)]; affected sibling; line PD20 hygro; complementation group D2; hygromycin resistant; immortalized fibroblast line; corrected version of this line is GM16634; uncorrected lymphoblast line is GM16756.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: FANCD2
Disease疾病类型:
Mutations突变: ARG1236HIS SER126GLY AND 13-BP INS
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