GM21872
Fibroblast from Skin, Unspecified
Description:
ROBERTS SYNDROME; RBS
ESTABLISHMENT OF COHESION 1, S. CERVISIAE, HOMOLOG OF, 2; ESCO2
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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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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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Molecular characterization before cell line submission to CCR
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ISCN
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46,XX [43]/47,XX,+7 [2]
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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 |
4.26 |
| Passage Frozen |
15 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
ESCO2 |
| Chromosomal Location |
8p21.1 |
| Allelic Variant 1 |
I102fsX1; ROBERTS SYNDROME |
| Identified Mutation |
307_311delAGAAA |
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| Gene |
ESCO2 |
| Chromosomal Location |
8p21.1 |
| Allelic Variant 2 |
I102fsX1; ROBERTS SYNDROME |
| Identified Mutation |
307_311delAGAAA |
| Remarks |
Clinically affected; product of second cousin consanguineous marriage; fetal ultrasound at 23 weeks gestation demonstrated short femora and hypoechoic femoral shafts; lower legs and forearms could not be identified; postmortem findings after pregnancy termination included: prominent eyes, flattened nasal tip, micrognathia, high arched deeply ridged palate, extremely short upper limbs with only four digits bilaterally, syndactyly, short lower limbs held in frog-like position with five digits bilaterally, enlarged clitoris, absent radii and ulnae, narrow distal humeri, three metacarpals and four digits with thumbs missing, absent fibulae; another similarly affected pregnancy was also terminated; donor subject is homozygous for a 5 bp deletion at nucleotide 307 in exon 3 of the ESCO2 gene (c.307_311delAGAAA) resulting in a frameshift that leads to a truncated protein (p.I102fsX1) |
| Schüle B, Oviedo A, Johnston K, Pai S, Francke U, Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation American journal of human genetics77:1117-28 2005 |
| PubMed ID: 16380922 |
| Passage Frozen |
15 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
10% |
| Percent O2 |
AMBIENT |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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