| Cell line name |
GM01774 |
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| Synonyms |
GM-1774; GM01774A |
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| Accession |
CVCL_7336 |
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| Resource Identification Initiative |
To cite this cell line use: GM01774 (RRID:CVCL_7336) |
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| Comments |
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620. |
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| Sequence variations |
- Mutation; HGNC; HGNC:2890; DKC1; Simple; p.Leu37del (c.109_111delCTT); ClinVar=VCV000011583; Zygosity=Hemizygous (Coriell=GM01774).
|
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| Disease |
Dyskeratosis congenita (NCIt: C111802)
Dyskeratosis congenita (ORDO: Orphanet_1775) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Hierarchy |
Children:
|
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| Originate from same individual |
CVCL_D515 ! GM01775 |
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| Sex of cell |
Male |
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| Age at sampling |
7Y |
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| Category |
Finite cell line |
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| Publications | DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
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
Richard A. Mulivor, Sharon F. Suchy;
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) PubMed=25992652; DOI=10.1371/journal.pone.0127414; PMCID=PMC4436374
Bai-Wei Gu, Marisa Apicella, Jason A. Mills, Jian-Meng Fan, Dara A. Reeves, Deborah L. French, Gregory M. Podsakoff, Monica Bessler, Philip J. Mason;
Impaired telomere maintenance and decreased canonical WNT signaling but normal ribosome biogenesis in induced pluripotent stem cells from X-linked dyskeratosis congenita patients.
PLoS ONE 10:e0127414.1-e0127414.20(2015) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM01774
|
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| Cell line databases/resources |
CLO; CLO_0031003
|
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| Biological sample resources |
BioSample; SAMN00807153
|
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| Encyclopedic resources |
Wikidata; Q54837067
|
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| Entry history |
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| Entry creation | 04-Apr-2012 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 19 |
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