| Cell line name |
GM01996 |
|---|
| Synonyms |
GM-1996; GM 1996; BH-76-506 |
|---|
| Accession |
CVCL_V813 |
|---|
| Resource Identification Initiative |
To cite this cell line use: GM01996 (RRID:CVCL_V813) |
|---|
| Comments |
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057. |
|---|
| Sequence variations |
- Mutation; HGNC; 4135; GALT; Simple; p.Asn314Asp (c.940A>G); ClinVar=VCV000003613; Zygosity=Heterozygous (Coriell=GM01996).
|
|---|
| Disease |
Galactosemia (NCIt: C84723)
Galactosemia (ORDO: Orphanet_352) |
|---|
| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
|---|
| Sex of cell |
Male |
|---|
| Age at sampling |
1Y |
|---|
| Category |
Finite cell line |
|---|
| Publications | 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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977) PubMed=891264; DOI=10.1159/000130797
Donnell G.N., Ng W.G., Alfi O.S., Greene A.E., Coriell L.L.
Duarte variant-galactosemia heterozygote. Repository identification No. GM-1996.
Cytogenet. Cell Genet. 19:53-54(1977) PubMed=1766867; DOI=10.1093/nar/19.25.7049
Reichardt J.K.V.
Molecular analysis of 11 galactosemia patients.
Nucleic Acids Res. 19:7049-7052(1991) CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992) |
|---|
| Cross-references |
|---|
| Cell line collections (Providers) |
Coriell; GM01996
|
|---|
| Cell line databases/resources |
CLO; CLO_0032286
|
|---|
| Biological sample resources |
BioSample; SAMN00807362
|
|---|
| Encyclopedic resources |
Wikidata; Q54837221
|
|---|
| Entry history |
|---|
| Entry creation | 16-Apr-2014 |
|---|
| Last entry update | 30-Jan-2024 |
|---|
| Version number | 17 |
|---|