| Cell line name |
GM00291 |
|---|
| Synonyms |
GM-291 |
|---|
| Accession |
CVCL_V763 |
|---|
| Resource Identification Initiative |
To cite this cell line use: GM00291 (RRID:CVCL_V763) |
|---|
| Comments |
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620. |
|---|
| Sequence variations |
- Mutation; HGNC; 4006; FUCA1; Simple; p.Gln82Ter (c.244C>T) (Q77*); ClinVar=VCV000000685; Zygosity=Heterozygous (from autologous cell line GM01024).
- Mutation; HGNC; 4006; FUCA1; Simple; p.Gln286Arg (c.857A>G) (Q281R); ClinVar=VCV000000691; Zygosity=Heterozygous (from autologous cell line GM01024).
|
|---|
| Disease |
Fucosidosis (NCIt: C61274)
Fucosidosis (ORDO: Orphanet_349) |
|---|
| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
|---|
| Originate from same individual |
CVCL_V792 ! GM01024 |
|---|
| Sex of cell |
Male |
|---|
| Age at sampling |
9Y |
|---|
| Category |
Finite cell line |
|---|
| Publications | PubMed=1192845; DOI=10.1159/000130518
Beratis N.G., Kousseff B.G., Hirschhorn K., Greene A.E., Coriell L.L.
Fucosidosis type 2. Repository identification Nos. GM-289 to GM-292.
Cytogenet. Cell Genet. 15:195-197(1975) DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977) CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992) |
|---|
| Cross-references |
|---|
| Cell line collections (Providers) |
Coriell; GM00291
|
|---|
| Cell line databases/resources |
CLO; CLO_0025509
|
|---|
| Biological sample resources |
BioSample; SAMN00794934
|
|---|
| Encyclopedic resources |
Wikidata; Q54836139
|
|---|
| Entry history |
|---|
| Entry creation | 16-Apr-2014 |
|---|
| Last entry update | 29-Jun-2023 |
|---|
| Version number | 15 |
|---|
