Description:
ACHONDROGENESIS; TYPE 1 - 200600; TYPE 2 - 200610; OR GREBE TYPE - 200700
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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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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Ethnicity
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ASHKENAZI
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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,XX,15p+ 15p+ is C band positive
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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 |
6 |
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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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| Remark |
Ashkenazi; stillborn; marked limb shortening; macrocephaly; cleft palate; depressed nasal bridge; micrognathia; polyhydramnios by ultrasound; radiograph shows shortened long bones, decreased mineralization, normal calvarium; Type 2 |
| dbSNP |
dbSNP ID: 19118 |
| NCBI GTR |
200600 ACHONDROGENESIS, TYPE IA; ACG1A |
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200610 ACHONDROGENESIS, TYPE II; ACG2 |
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200700 CHONDRODYSPLASIA, GREBE TYPE |
| OMIM |
200600 ACHONDROGENESIS, TYPE IA; ACG1A |
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200610 ACHONDROGENESIS, TYPE II; ACG2 |
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200700 CHONDRODYSPLASIA, GREBE TYPE |
| Omim Description |
ACHONDROGENESIS, HOUSTON-HARRIS TYPE |
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ACHONDROGENESIS, TYPE IA; ACG1A |
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ACHONDROGENESIS, LANGER-SALDINO TYPE |
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ACHONDROGENESIS, TYPE IB, FORMERLY |
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ACHONDROGENESIS, TYPE II; ACG2 |
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ACHONDROGENESIS-HYPOCHONDROGENESIS, TYPE II |
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CHONDROGENESIS IMPERFECTA |
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ACHONDROGENESIS, BRAZILIAN |
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ACHONDROGENESIS, TYPE II, FORMERLY |
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ACROMESOMELIC DYSPLASIA, GREBE TYPE; AMDG |
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CHONDRODYSPLASIA, GREBE TYPE |
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GREBE CHONDRODYSPLASIA |
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GREBE DYSPLASIA |
| Passage Frozen |
6 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
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