Cellosaurus cell line LCHi003-A (CVCL

Cross-references
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; 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 Anshuman Sinha, Sameer Ahmad Guru, Shankara Varadarajan, Angel Alvarez, Sunjay Kaushal, Xue-Bin Fu; 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)
Cell line databases/resources	hPSCreg; LCHi003-A
Encyclopedic resources	Wikidata; Q114311873
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	5