Name：NTCC? NA25285 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA25285
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: 5 YR
Gender性別: Male
Description描述: CODAS SYNDROME | COAGULATION FACTOR V; F5 | LON PEPTIDASE 1, MITOCHONDRIAL; LONP1
Remarks: Clinically affected; diagnosed at 3 years of age; physical features: broad skull and flattened midface; ptosis; congenital cataracts causing visual impairment; grooved nasal tip; anteverted nares; small ears; helix hypoplasia (crumpled ears); bilateral hearing loss; pre-tragal cartilagenous bumps; high intact palate; paretic atrophic vocal cords; congenital stridor; laryngeal dysplasia (glottic narrowing); swallowing dysfunction; small patent foramen ovale; unilateral cryptorchidism; hypotonia; perennial rhinitis; environmental allergies; chronic sialorrhea causing aspiration and recurrent pneumonia; recurrent vomiting; spondoepi/metaphyseal dysplasia(skeletal survey at 1 year old shows abnormal cervical vertebrae and abnormal proximal/distal femurs); scoliosis of thoracolumbar spine (films at at 3 years of age show 45 degree curvature T2-T9 apex to the right); bilateral genu valgum; symmetric somatic and linear growth delay (5th percentile); subject ambulatory with walker by age 30 months; developmental delay; Sanger sequencing determined the subject to be homozygous for a c.2161C>G mutation in the LONP1 gene; subject is also heterozygous for the c.1601G>A mutation in the Factor 5 Leiden gene (determined by high resolution melting curve analysis) procedures include: tracheostomy, myringotomy; gastro-jejunal feeding (gastrostomy tube). [see publication by Strauss et al, PMID: 25574826].
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: F5 LONP1
Disease疾病類型:
Mutations突變: c.1601G>A c.2161C>G
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
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