ID   CRICKi006-A
AC   CVCL_C3R1
SY   iFCI005
DR   BioSamples; SAMEA112226497
DR   hPSCreg; CRICKi006-A
DR   Wikidata; Q116048789
RX   PubMed=36332468;
CC   From: The Francis Crick Institute Limited; London; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 2961; DYNC1H1; Simple; p.Asp338Asn (c.1012G>A); ClinVar=VCV000637514; Zygosity=Heterozygous (PubMed=36332468).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C191765; Autosomal dominant lower extremity-predominant spinal muscular atrophy-1
DI   ORDO; Orphanet_209341; DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 15-12-22; Last updated: 05-10-23; Version: 4
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RX   PubMed=36332468; DOI=10.1016/j.scr.2022.102954;
RA   Devito L.G., Cooper F., D'Angelo I., Smith J., Healy L.E.;
RT   "Generation of four iPSC lines (CRICKi004-A; CRICKi005-A; CRICKi006-A,
RT   CRICKi007-A) from spinal muscle atrophy patients with lower extremity
RT   dominant (SMALED) phenotype.";
RL   Stem Cell Res. 65:102954-102954(2022).
//