Cellosaurus cell line CRICKi006-A (CVCL

Cross-references
Cell line name	CRICKi006-A
Synonyms	iFCI005
Accession	CVCL_C3R1
Resource Identification Initiative	To cite this cell line use: CRICKi006-A (RRID:CVCL_C3R1)
Comments	From: The Francis Crick Institute Limited; London; United Kingdom. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:2961; DYNC1H1; Simple; p.Asp338Asn (c.1012G>A); ClinVar=VCV000637514; Zygosity=Heterozygous (PubMed=36332468).
Disease	Autosomal dominant lower extremity-predominant spinal muscular atrophy-1 (NCIt: C191765) DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy (ORDO: Orphanet_209341)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	3Y
Category	Induced pluripotent stem cell
Publications	PubMed=36332468; DOI=10.1016/j.scr.2022.102954 Liani Gasparini Devito, Fay Cooper, Ilenia D'Angelo, Jim Smith, Lyn E. Healy; Generation of four iPSC lines (CRICKi004-A; CRICKi005-A; CRICKi006-A, CRICKi007-A) from spinal muscle atrophy patients with lower extremity dominant (SMALED) phenotype. Stem Cell Res. 65:102954-102954(2022)
Cell line databases/resources	hPSCreg; CRICKi006-A
Biological sample resources	BioSamples; SAMEA112226497
Encyclopedic resources	Wikidata; Q116048789
Entry history
Entry creation	15-Dec-2022
Last entry update	19-Dec-2024
Version number	5