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Cellosaurus LCHi003-A (CVCL_C1U8)

[Text version]
Cell line name LCHi003-A
Synonyms SKMT001-22
Accession CVCL_C1U8
Resource Identification Initiative To cite this cell line use: LCHi003-A (RRID:CVCL_C1U8)
Comments From: Lurie Children's Hospital of Chicago; Chicago; USA.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 2973; DNM1L; Simple; p.Gly401Ser (c.1201G>A); ClinVar=VCV001299485; Zygosity=Heterozygous (PubMed=37086582).
Disease Dilated cardiomyopathy (NCIt: C84673)
Dilated cardiomyopathy (ORDO: Orphanet_217604)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications

PubMed=37086582; DOI=10.1016/j.scr.2023.103092
Sinha A., Guru S.A., Varadarajan S., Alvarez A., Kaushal S., Fu X.-B.
Generation of a human induced pluripotent stem cell line from a pediatric heart failure patient with de novo DNM1L mutation.
Stem Cell Res. 69:103092-103092(2023)

Cross-references
Cell line databases/resources hPSCreg; LCHi003-A
Encyclopedic resources Wikidata; Q114311873
Entry history
Entry creation22-Sep-2022
Last entry update05-Oct-2023
Version number4