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Cellosaurus ND39032 (CVCL_Y824)

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Cell line name ND39032
Synonyms ND39032*C
Accession CVCL_Y824
Resource Identification Initiative To cite this cell line use: ND39032 (RRID:CVCL_Y824)
Comments Population: Caucasian.
Caution: SOD1 mutation wrongly indicated as L144P in NHCDR.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11179; SOD1; Simple; p.Leu145Phe (c.435G>C) (L144F); ClinVar=VCV000586637; Zygosity=Unspecified (NHCDR=ND39032).
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_EY26 (ND29415)
Sex of cell Male
Age at sampling 51Y
Category Induced pluripotent stem cell
Publications

PubMed=25760436; DOI=10.1371/journal.pone.0118266; PMCID=PMC4356618
Ying Li, Umamahesw Balasubramanian, Devon Cohen, Ping-Wu Zhang, Elizabeth Mosmiller, Rita Sattler, Nicholas John Maragakis, Jeffrey D. Rothstein;
A comprehensive library of familial human amyotrophic lateral sclerosis induced pluripotent stem cells.
PLoS ONE 10:e0118266.1-e0118266.13(2015)

Cross-references
Cell line collections (Providers) Coriell; ND39032 - Discontinued
NHCDR; ND39032
Cell line databases/resources SKIP; SKIP001083
SKIP; SKIP004712
Encyclopedic resources Wikidata; Q54930101
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number17