ID   UCLi006-A
AC   CVCL_VF11
SY   LCMD-L302P-UCL01C2
DR   BioSamples; SAMEA104130970
DR   EBiSC; UCLi006-A
DR   ECACC; 66540593
DR   hPSCreg; UCLi006-A
DR   Wikidata; Q54989674
CC   From: University College London; London; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 6636; LMNA; Simple; p.Leu302Pro (c.905T>C); ClinVar=VCV000066953; Zygosity=Heterozygous (hPSCreg=UCLi006-A).
CC   Discontinued: ECACC; 66540593; true.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C148369; Muscular dystrophy congenital, LMNA-related
DI   ORDO; Orphanet_157973; Congenital muscular dystrophy due to LMNA mutation
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 30-01-24; Version: 11
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