GM09209
Fibroblast from Lung, Lung
Description:
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
Disorders of the Nervous System |
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Biopsy Source
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Lung
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Cell Type
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Fibroblast
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Tissue Type
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Lung
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Lung, Lung
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY,del(17)(p13).arr[hg19]17p13.3p13.2(513-5881377)x1
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
6.96 |
| Passage Frozen |
5 |
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| 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 |
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| Cytogenetics |
Chromosome 17: DELETION Aneuploid Segment (-)17pter>17p13 |
| 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 |
| 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 |
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| 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 |
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| 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 |
| 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 |
- |
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