GM10379
Fibroblast from Skin, Axilla
Description:
FRASER SYNDROME
INVERTED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Other Disorders of Known Biochemistry |
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Biopsy Source
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Axilla
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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, Axilla
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Race
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Black/African American
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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,inv(9)(pter>p11::q13>p11::q13>qter)
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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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| Passage Frozen |
2 |
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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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| Remarks |
Fibro cult (axilla); sim aff sib; bilat cryptophthalmos; abs palpebrae; hypertelorism; ext audit canals incompletely canalized; laryngeal atresia; pulmon hyperplasia; bilat agen of kidneys & ureters; penis deform; dad is GM10378A Lym |
| Bouaoud J, Olivetto M, Testelin S, Dakpe S, Bettoni J, Devauchelle B, Fraser syndrome: review of the literature illustrated by a historical adult case International journal of oral and maxillofacial surgery: 2019 |
| PubMed ID: 31982235 |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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