Name：NTCC? NA20000 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA20000
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來源:
Age年齡: 1 YR
Gender性別: Male
Description描述: CORNELIA DE LANGE SYNDROME 1; CDLS1 | NIPPED-B-LIKE; NIPBL
Remarks: Clinically affected; pregnancy complicated by IUGR and oligohydramnios; born at 38 weeks gestation; birthweight 1637g (<10th percentile), birthlength 40.5 cm (<10th percentile), head circumference at birth 29 cm (<10th percentile); poor respiratory effort in the delivery room necessitated intubation; GE reflux; at one day of life EKG showed left axis deviation, nonspecific intraventricular block and left ventricular hypertrophy with repolarization abnormality but repeat EKG at 5 days of life was normal; ECHO showed patent foramen ovale and some tricuspid regurgitation; moderate bilateral hydronephrosis; undescended testicles and midline chordee; ptosis; glaucoma; single left forearm bone with presence only of a thumb and 2nd finger; contracture of elbow on left; right hand showed distal hypoplasia and synphalangism of the 5th finger; head ultrasound on day one of life showed enlargement of cisterna magna; arachnoid cyst noted on brain MRI; brain CT showed small right posterior fossa subdural hemorrhage; severe hearing loss bilaterally per failed BAER in neonatal period and at 6 months of age; brachycephaly; depressed nasal bridge; synophyrys; thin upper lip; hirsutism; thick, curly eyelashes; high, ridged palate; posteriorly rotated and cupped ears; hypoplastic nipples and umbilicus; small feet; history of 3 hospitalizations involving feeding and respiratory problems; at 13 months of age: height was 59.5 cm (<5th percentile), weight was 4.75 kg (<5th percentile), head circumference was 39.25 cm (<3rd percentile); donor subject carries a 5721del5 frameshift mutation in exon 31 of the NIPBL gene. The deletion begins with a change in the third codon for Asparagine at position 1907, which is therefore conserved. The deletion results in a stop codon 13 amino acids after this site at position 1920 (N1907fsX13).
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: NIPBL
Disease疾病類型:
Mutations突變: 5721del5
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
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