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Cellosaurus GM09197 (CVCL_W576)

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Cell line name GM09197
Accession CVCL_W576
Resource Identification Initiative To cite this cell line use: GM09197 (RRID:CVCL_W576)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[179] (c.52CAG(179)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=25928884).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_D0QS (BIHi035-A)CVCL_ZD64 (CS97iHD180-n1)CVCL_ZD65 (CS97iHD180-n2)
CVCL_ZD66 (CS97iHD180-n3)CVCL_W580 (HD180i.5)CVCL_W581 (HD180i.6)
CVCL_W582 (HD180i.7)CVCL_W583 (HD180n)CVCL_W577 (ND36999)
Sex of cell Male
Age at sampling 6Y
Category Finite cell line
Publications

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=25732146; DOI=10.2174/1566524015666150303110300; PMCID=PMC4428755
Shin-ichi Kano, Ming Yuan, Ross A. Cardarelli, Gustavo Maegawa, Norimichi Higurashi, Meriem Gaval-Cruz, Ashley M. Wilson, Carlos A. Tristan, Mari A. Kondo, Yian Chen, Minori Koga ...Show all 26 authors... , Cassandra Obie, Koko Ishizuka, Saurav Seshadri, Rupali Srivastava, Takahiro A. Kato, Yasue Horiuchi, Thomas W. Sedlak, Yohan Lee, Judith Livant Rapoport, Shinichi Hirose, Hideyuki Okano, David Lee Valle, Patricio O'Donnell, Akira Sawa, Mihoko Kai; Show fewer authors
Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy.
Curr. Mol. Med. 15:138-145(2015)

PubMed=25928884; DOI=10.1186/s13024-015-0018-7; PMCID=PMC4411791
Melvin M. Evers, Menno H. Schut, Barry A. Pepers, Melek Atalar, Martine J. van Belzen, Richard Lewis Maxwell Faull, Raymund A.C. Roos, Willeke M.C. van Roon-Mom;
Making (anti-) sense out of huntingtin levels in Huntington disease.
Mol. Neurodegener. 10:21.1-21.11(2015)

Cross-references
Cell line collections (Providers) Coriell; GM09197
Cell line databases/resources CLO; CLO_0010640
Biological sample resources BioSample; SAMN00798585
Encyclopedic resources Wikidata; Q54843609
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number15