Home  |  Contact

Cellosaurus GM03123 (CVCL_7374)

[Text version]
Cell line name GM03123
Synonyms GM3123; GM03123*A
Accession CVCL_7374
Resource Identification Initiative To cite this cell line use: GM03123 (RRID:CVCL_7374)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7897; NPC1; Simple; p.Pro237Ser (c.709C>T); ClinVar=VCV000021142; Zygosity=Heterozygous (Coriell=GM03123).
  • Mutation; HGNC; 7897; NPC1; Simple; p.Ile1061Thr (c.3182T>C); ClinVar=VCV000002967; Zygosity=Heterozygous (Coriell=GM03123).
Disease Niemann-Pick disease, type C1 (NCIt: C126864)
Niemann-Pick disease type C (ORDO: Orphanet_646)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_VJ19 (GM25864)CVCL_RM41 (NPC1-2#26)CVCL_RM42 (NPC1-2#9)
CVCL_RM43 (NPC1-2-Corr#31)CVCL_RM44 (NPC1-2-Corr#32)CVCL_RM45 (NPC1-2-Corr#36)
CVCL_B5V1 (TRNDi027-A)CVCL_B5V2 (TRNDi027-B)
Originate from same individual CVCL_7375 ! GM03124
Sex of cell Female
Age at sampling 9Y
Category Finite cell line
Publications

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)

PubMed=29631617; DOI=10.1186/s13023-018-0798-2
Sima N., Li R., Huang W., Xu M., Beers J.K., Zou J.-Z., Titus S.A., Ottinger E.A., Marugan J.J., Xie X., Zheng W.
Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses.
Orphanet J. Rare Dis. 13:54.1-54.14(2018)

Cross-references
Cell line collections (Providers) Coriell; GM03123
Cell line databases/resources CLO; CLO_0003529
CLO; CLO_0013588
CLDB; cl1496
Biological sample resources BioSample; SAMN00808257
Encyclopedic resources Wikidata; Q54837885
Entry history
Entry creation04-Apr-2012
Last entry update30-Jan-2024
Version number19