Name細胞名稱：NTCC? GM25285 CODAS SYNDROME | COAGULATION FACTOR V; F5 | LON PEPTIDASE 1, MITOCHONDRIAL; LONP1 B-Lymphocyte Cell Line
科達斯綜合癥|凝血因子 V； F5| LON 肽酶 1，線粒體；朗普1細胞株
Description描述：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].
Category分類：B-Lymphocyte
ID編號:NTCC?-GM25285
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: White
Age年齡:5 YR
Gender性別:Male
Cell Type細胞類型: CODAS SYNDROME | COAGULATION FACTOR V; F5 | LON PEPTIDASE 1, MITOCHONDRIAL; LONP1
Affected State:Yes
Product:LCL
Gene:F5 LONP1
Mutations突變:c.1601G>A c.2161C>G
Ethnicity:Amish
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養基: BioVector? Roswell Park Memorial Institute Medium 1640 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:

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