GM22786
Fibroblast from Skin, Unspecified
Description:
MARSHALL SYNDROME
COLLAGEN, TYPE XI, ALPHA-1; COL11A1
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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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Unspecified
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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, Unspecified
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Race
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Black/African American
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Family Member
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2
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Family History
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N
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Relation to Proband
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mother
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Confirmation
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Molecular characterization before cell line submission to CCR
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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 |
5.5 |
| Passage Frozen |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
COL11A1 |
| Chromosomal Location |
1p21 |
| Allelic Variant 1 |
unknown; MARSHALL/STICKLER SYNDROME |
| Identified Mutation |
IVS50+1G>A |
| Remarks |
Clinically affected; congenital cataracts; strabismus; hypertelorism; flat nasal bridge; affected son is GM22659; donor subject is heterozygous for an IVS50+1G>A splice site mutation in the COL11A1 gene; mutation frequency indicates possible mosaicism |
| Passage Frozen |
4 |
| Split Ratio |
1:4 |
| 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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