GM21873
Amniotic fluid-derived cell line from Amniotic fluid
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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Amniotic fluid
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Cell Type
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Amniotic fluid-derived cell line
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Transformant
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Untransformed
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Sample Source
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Amniotic fluid-derived cell line from Amniotic fluid
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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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Molecular characterization before cell line submission to CCR
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ISCN
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46,XX,der(1;6)(q10;p10)[20]/45,X,der(1;6),-6[3]/45,XX,der(1;6),-6,-19[2].ish der(1;6)(wcp6+,D6Z1+,D1Z5+,wcp1+)
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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 |
6.88 |
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| Gene |
ESCO2 |
| Chromosomal Location |
8p21.1 |
| Allelic Variant 1 |
609353.0007; ROBERTS SYNDROME |
| Identified Mutation |
752delA |
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| Gene |
ESCO2 |
| Chromosomal Location |
8p21.1 |
| Allelic Variant 2 |
I377_378insLX; ROBERTS SYNDROME |
| Identified Mutation |
IVS6-7A>G |
| Remarks |
Clinically affected; ultrasound of fetus at 18 weeks revealed: large frontal encephalocele, abnormal face, widely spaced orbits, bulging eyes, flat midface, all four proximal and distal limbs extremely reduced, flipper-like hands attached at shoulders with only three digits, and feet attached to pelvis had five digits; amniotic fluid had elevated alpha-fetoprotein and was positive for acetylcholinesterase consistent with an open neural tube defect; chromosome spread from cultured cells showed heterochromatin repulsion; microcephaly; donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 752 in exon 3 of the ESCO2 gene (c.752delA) resulting in a frameshift leading to a premature stop codon and a predicted protein truncation (p.K253fsX12); the second allele has an A>G substitution in intron 6 [c.IVS6-7A>G (c.1132-7A>G)] which activates a cryptic splice site (p.I377_378insLX) |
| 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 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Amniotic Fluid Culture Medium |
| Serum |
none |
| Substrate |
None specified |
| Supplement |
- |
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