GM22122
Fibroblast from Skin, Arm
Description:
GROWTH CONTROL, Y-CHROMOSOME INFLUENCED; GCY
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Arm
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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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Karyotypic analysis after cell line submission to CCR
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ISCN
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47,XYY.ish Y(SRYx2,DYZ1x2)
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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 |
3.63 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Cytogenetics |
Chromosome Y: ANEUPLOID Aneuploid Segment (+)Ypter>Yqter |
| Remarks |
Clinically affected; Marfanoid habitus; height is 7 ft 4 in; malar hypoplasia; dolicocephaly; dysplastic pinna; overbite; micrognathia; high palate; deviated uvula; absent gag reflex; small mouth with trouble opening; mild cataracts in right eye; abnormal chest wall; downsloping ribs; pectus excavatum; hernias; grade 2/6 systolic murmur; diminished right and left dorsalic pedis and posterior tibial; cyanosis in toes and feet; varicosities; edema; extremely dry skin with red lesions; scoliosis; pes planus; genu valga; Beighton score 0/9; headaches; sleep disturbed by itching; asthma; chest pain fixed with surgery; heart burn; acute angulation of midcervical spine with reversal of normal cervical lordosis; degenerative disc disease at L4-S1; disc space with mild broad based posterior protrusion; mild to moderate facet changes with some foraminal narrowing; moderate osteoarthritis of the lumbar facets; negative for FBN1 mutations by direct sequencing, deletion not ruled out; see GM22121 Lymphoid |
| 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 |
| Cumulative PDL at Freeze |
3.63 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| 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 |
| Substrate |
None specified |
| Supplement |
- |
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