Cellosaurus cell line UCLi024-A (CVCL

Cross-references
Cell line name	UCLi024-A
Synonyms	SIMD277; GOS111B
Accession	CVCL_D0N1
Resource Identification Initiative	To cite this cell line use: UCLi024-A (RRID:CVCL_D0N1)
Comments	From: University College London; London; United Kingdom. Population: Caucasian; British. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:746; ASL; Simple; p.Arg146Gln (c.437G>A); ClinVar=VCV000203627; Zygosity=Homozygous (PubMed=38422816).
Disease	Argininosuccinic aciduria (NCIt: C84569) Argininosuccinic aciduria (ORDO: Orphanet_23)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	11Y
Category	Induced pluripotent stem cell
Publications	PubMed=38422816; DOI=10.1016/j.scr.2024.103365 Claire Duff, Madeha Islam, Onelia Gagliano, Hema Pramod, Hassan Rashidi, Manju Ann Kurian, Paul Gissen, Julien Baruteau; Generation of induced pluripotent stem cells (UCLi024-A) from a patient with argininosuccinate lyase deficiency carrying a homozygous c.437G > A (p.Arg146Gln) mutation. Stem Cell Res. 76:103365-103365(2024)
Cell line databases/resources	hPSCreg; UCLi024-A
Biological sample resources	BioSamples; SAMEA114335215
Encyclopedic resources	Wikidata; Q123033677
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	4