Name：NTCC? NA09960 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA09960
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 22 YR
Gender性別: Female
Description描述: BLOOM SYNDROME; BLM | RECQ PROTEIN-LIKE 3; RECQL3
Remarks: Clinically affected; B.S. Registry #27; born at term; birth weight = 1,960 grams; at age 2 years: weight = 6.8 kg, height = 74 cm; short stature; learning disabilities; sun sensitive facial telangiectasias; cafe-au-lait spots; high rate of sister chromatid exchange; chromosome breakage; donor subject is homozygous for a 6-bp deletion/7-bp insertion [6-bp del/7-bp ins] at nucleotide 2,281 of the open reading frame of the RECQL3 gene, which results in a frameshift and a stop codon; same donor as GM16377.
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: RECQL3
Disease疾病類型:
Mutations突變: 6-BP DEL/7-BP INS
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
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
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net