GM16633 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2 | FANCD2 GENE; FANCD2 Skin, Unspecified Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM16633 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2 | FANCD2 GENE; FANCD2 Skin, Unspecified Cell Line
FANCONI 贫血，补充组 D2； FANCD2 | FANCD2基因； FANCD2细胞株
Description描述：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.
Category分类：Fibroblast
ID编号:NTCC®-GM16633
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race:
Age年龄:7 YR
Gender性别:Male
Cell Type细胞类型: FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2 | FANCD2 GENE; FANCD2
Affected State:Yes
Product:Fibroblast
Gene:FANCD2
Mutations突变:ARG1236HIS SER126GLY AND 13-BP INS
Ethnicity:
Family:1985
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® MEM (Eagle) Alpha Modification with nucleosides with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
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
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