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GM09209 Fibroblast from Lung, Lung

Description:

MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
CHROMOSOME DELETION

Affected:

No Data

Sex:

Male

Age:

18 FW (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
dbGaP
Class Disorders of the Nervous System
Biopsy Source Lung
Cell Type Fibroblast
Tissue Type Lung
Transformant Untransformed
Sample Source Fibroblast from Lung, Lung
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XY,del(17)(p13).arr[hg19]17p13.3p13.2(513-5881377)x1
Species Homo sapiens
Common Name Human
Remarks Lung fibroblast culture; microcephaly; lissencephaly; anteverted nares; ear abnormalities; micrognathia; clinodactyly; sacral dimple; hydrocephalus; severe cerebral atrophy; poor development of frontal and temporal lobes; cerebellum poorly developed; 46,XY,del(17) (qter>p13.1:).ish del(17)(D17S379-,RARA+); see GM09208 diaphragm fibroblast culture and GM09210 testis fibroblast culture from this same fetus

Characterizations

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PDL at Freeze 6.96
Passage Frozen 5
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis
 
Cytogenetics Chromosome 17: DELETION Aneuploid Segment (-)17pter>17p13

Phenotypic Data

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Remarks Lung fibroblast culture; microcephaly; lissencephaly; anteverted nares; ear abnormalities; micrognathia; clinodactyly; sacral dimple; hydrocephalus; severe cerebral atrophy; poor development of frontal and temporal lobes; cerebellum poorly developed; 46,XY,del(17) (qter>p13.1:).ish del(17)(D17S379-,RARA+); see GM09208 diaphragm fibroblast culture and GM09210 testis fibroblast culture from this same fetus

Publications

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Tan VJ, Liu T, Arifin Z, Pak B, Tan ASC, Wong S, Khor CC, Yang H, Lee CG, Huang Z, Choolani MA, Chong SS, Third-Generation Single-Molecule Sequencing for Preimplantation Genetic Testing of Aneuploidy and Segmental Imbalances Clinical chemistry: 2022
PubMed ID: 37477572
 
Schaffer AE1,2, Breuss MW3, Caglayan AO4,5, Al-Sanaa N6, Al-Abdulwahed HY6, Kaymakçalan H7, Yılmaz C8, Zaki MS9, Rosti RO3, Copeland B3, Baek ST3, Musaev D3, Scott EC3, Ben-Omran T10, Kariminejad A11, Kayserili H12, Mojahedi F13, Kara M14, Cai N3, Silhavy JL3, Elsharif S14, Fenercioglu E15, Barshop BA16, Kara B17, Wang R3, Stanley V3, James KN3, Nachnani R3, Kalur A18, Megahed H9, Incecik F19, Danda S20, Alanay Y21, Faqeih E22, Melikishvili G23, Mansour L24, Miller I25, Sukhudyan B26, Chelly J27, Dobyns WB28, Bilguvar K4, Jamra RA29, Gunel M4, Gleeson JG30., Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration Nature Genetics:1093-1101 2018
PubMed ID: 30013181
 
Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013
PubMed ID: 23665875

External Links

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dbSNP dbSNP ID: 11232
Gene Cards MDCR
NCBI Gene Gene ID:4186
NCBI GTR 247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
OMIM 247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
Omim Description MDSMILLER-DIEKER SYNDROME CHROMOSOME REGION, INCLUDED; MDCR, INCLUDED
  MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS

Images

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View copy number variation 
copy number variation 

Culture Protocols

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Passage Frozen 5
Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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