Description:
ACHONDROGENESIS, TYPE II; ACG2
COLLAGEN, TYPE II, ALPHA-1; COL2A1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| 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
|
|
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 |
| |
| Gene |
COL2A1 |
| Chromosomal Location |
12q13.11-q13.2 |
| Allelic Variant 1 |
; ACHONDROGENESIS, TYPE II; ACG2 |
| Identified Mutation |
c.2680-2A>G |
| Remarks |
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; isoform 1 exon 41 acceptor A to G mutation. |
| Okada M, Ikegawa S, Morioka M, Yamashita A, Saito A, Sawai H, Murotsuki J, Ohashi H, Okamoto T, Nishimura G, Imaizumi K, Tsumaki N, Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells Human molecular genetics24:299-313 2014 |
| PubMed ID: 25187577 |
| Gene Cards |
COL2A1 |
| Gene Ontology |
GO:0001501 skeletal development |
|
GO:0005201 extracellular matrix structural constituent |
|
GO:0005581 collagen |
|
GO:0005584 collagen type I |
|
GO:0005585 collagen type II |
|
GO:0005737 cytoplasm |
|
GO:0006817 phosphate transport |
|
GO:0007605 perception of sound |
| NCBI Gene |
Gene ID:1280 |
| NCBI GTR |
120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1 |
|
200610 ACHONDROGENESIS, TYPE II; ACG2 |
| OMIM |
120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1 |
|
200610 ACHONDROGENESIS, TYPE II; ACG2 |
| Omim Description |
ACHONDROGENESIS, LANGER-SALDINO TYPE |
| |
ACHONDROGENESIS, TYPE IB, FORMERLY |
| |
ACHONDROGENESIS, TYPE II; ACG2 |
| |
ACHONDROGENESIS-HYPOCHONDROGENESIS, TYPE II |
| |
CHONDROGENESIS IMPERFECTA |
| 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 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|