Description:
ACHONDROGENESIS; TYPE 1 - 200600; TYPE 2 - 200610; OR GREBE TYPE - 200700
Repository
|
NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases |
Class |
Disorders of Connective Tissue, Muscle, and Bone |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Ethnicity
|
ASHKENAZI
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
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ISCN
|
46,XX,15p+ 15p+ is C band positive
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
6 |
|
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 |
|
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 |
|
200610 ACHONDROGENESIS, TYPE II; ACG2 |
|
200700 CHONDRODYSPLASIA, GREBE TYPE |
OMIM |
200600 ACHONDROGENESIS, TYPE IA; ACG1A |
|
200610 ACHONDROGENESIS, TYPE II; ACG2 |
|
200700 CHONDRODYSPLASIA, GREBE TYPE |
Omim Description |
ACHONDROGENESIS, HOUSTON-HARRIS TYPE |
|
ACHONDROGENESIS, TYPE IA; ACG1A |
|
ACHONDROGENESIS, LANGER-SALDINO TYPE |
|
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 |
|
ACROMESOMELIC DYSPLASIA, GREBE TYPE; AMDG |
|
CHONDRODYSPLASIA, GREBE TYPE |
|
GREBE CHONDRODYSPLASIA |
|
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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