Name細胞名稱：NTCC? GM16633 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2 | FANCD2 GENE; FANCD2 Skin, Unspecified Cell Line
FANCONI 貧血，補充組 D2； FANCD2 | FANCD2基因； FANCD2細胞株
Description描述：Clinically affected; caf錕?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分類：Fibroblast
ID編號:NTCC?-GM16633
Size/Quantity數量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race:
Age年齡:7 YR
Gender性別:Male
Cell Type細胞類型: FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2 | FANCD2 GENE; FANCD2
Affected State:Yes
Product:Fibroblast
Gene:FANCD2
Mutations突變:ARG1236HIS SER126GLY AND 13-BP INS
Ethnicity:
Family:1985
Relationship:proband
Karyotype:
Tissue Type組織來源:Skin
Complete Growth Medium完全培養基: BioVector? MEM (Eagle) Alpha Modification with nucleosides with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

Supplier供應商:BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
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