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Cellosaurus UCSFi001-A-74 (CVCL_D0NK)

[Text version]
Cell line name UCSFi001-A-74
Synonyms FUS-P525L HET 2D1; LSUHSi004-A-74
Accession CVCL_D0NK
Resource Identification Initiative To cite this cell line use: UCSFi001-A-74 (RRID:CVCL_D0NK)
Comments From: LSU Health Sciences Center in Shreveport; Shreveport; USA.
Population: Japanese.
Derived from site: In situ; Leg, skin; UBERON=UBERON_0001511.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4010; FUS; Simple_edited; p.Pro525Leu (c.1574C>T); ClinVar=VCV000280110; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37116345).
Disease Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (NCIt: C168750)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_Y803 (GM25256)
Sex of cell Male
Age at sampling 30Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=37116345

Markers:
AmelogeninX,Y
CSF1PO10,12
D2S133817,18
D3S135815,16
D5S81810
D7S82010,12
D8S117911,13
D13S3178,12
D16S5399,10
D18S5112,21
D19S43315,16
D21S1129
FGA22,25
Penta D9,11
Penta E13,15
TH016,7
TPOX8,11
vWA17,19

Run an STR similarity search on this cell line
Publications

PubMed=37116345; DOI=10.1016/j.scr.2023.103103; PMCID=PMC10262954
Akter M., Cui H.-C., Hosain M.A., Ding B.-J.
Generation of two induced pluripotent stem cell lines with heterozygous and homozygous amyotrophic lateral sclerosis-causing mutation P525L (c.1574C > T) in FUS gene.
Stem Cell Res. 69:103103-103103(2023)

Cross-references
Cell line databases/resources hPSCreg; UCSFi001-A-74
Biological sample resources BioSamples; SAMEA112670807
Encyclopedic resources Wikidata; Q123033686
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2