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Cellosaurus WC034i-SOD1-D90A (CVCL_UA49)

[Text version]
Cell line name WC034i-SOD1-D90A
Synonyms WiCell; wc034i-sod1-d90a
Accession CVCL_UA49
Resource Identification Initiative To cite this cell line use: WC034i-SOD1-D90A (RRID:CVCL_UA49)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 11179; SOD1; Simple; p.Asp91Ala (c.272A>C) (D90A); ClinVar=VCV000014766; Zygosity=Heterozygous (PubMed=24704493).
Disease Amyotrophic lateral sclerosis 1 (NCIt: C168749)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_T849 (ND29149)
Children:
CVCL_UA50 (WC035i-SOD1-D90D)
Sex of cell Female
Age at sampling 50Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=24704493

Markers:
AmelogeninX
CSF1PO9,11
D5S8189,11
D7S8208,9
D8S117910,15
D13S3179,12
D16S5399,12
FGA21,22
Penta D9,12
Penta E10,11
TPOX8
vWA16,18

Run an STR similarity search on this cell line
Publications

PubMed=24704493; DOI=10.1016/j.stem.2014.02.004; PMCID=PMC4230530
Chen H., Qian K., Du Z.-W., Cao J.-Y., Petersen A., Liu H.-S., Blackbourn L.W. 4th, Huang C.T.-L., Errigo A., Yin Y.-N., Lu J.-F., Ayala M., Zhang S.-C.
Modeling ALS with iPSCs reveals that mutant SOD1 misregulates neurofilament balance in motor neurons.
Cell Stem Cell 14:796-809(2014)

Cross-references
Encyclopedic resources Wikidata; Q98134813
Entry history
Entry creation13-Nov-2018
Last entry update29-Jun-2023
Version number8