Description:
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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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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46,XX,del(6)(:p24->qter).ish del(6)(p25)(6ptel48-,D6Z1+)
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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 |
6.14 |
| Passage Frozen |
9 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 6: DELETION Aneuploid Segment (-)6pter>6p24 |
|
Chromosome 6: DELETION Aneuploid Segment (-)(:6p24) |
| Remarks |
Dandy-Walker cyst/ hydrocephalus; Peter's anomaly of the eyes; hypertelorism; ear tags; low set ears; normal Hageman factor level in blood |
| 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 |
| |
| Gould DB, Jaafar MS, Addison MK, Munier F, Ritch R, MacDonald IM, Walter MA, Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment. BMC Med Genet5(1):17 2004 |
| PubMed ID: 15219231 |
| |
| Kume T, Deng KY, Winfrey V, Gould DB, Walter MA, Hogan BL, The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus. Cell93:985-96 1998 |
| PubMed ID: 9635428 |
| Passage Frozen |
9 |
| 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 |
- |
|