ID   ESi004-A
AC   CVCL_V156
SY   [GD]FiPS-4F-21c; GD-FiPS-4F-21c; GD-FiPS 21c
DR   BioSamples; SAMEA3303117
DR   EBiSC; ESi004-A
DR   ECACC; 66540069
DR   hPSCreg; ESi004-A
DR   SKIP; SKIP002422
DR   Wikidata; Q54832763
WW   Info; P-CMR[C]; -; https://p-cmrc.cat/wp-content/uploads/2020/06/GDFIPS-4F-21C.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Documento_Deposito_Linea_GD_FiPS-4F-21c.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexo_deposito_GDFiPS-4F-21c.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Centro de Medecina Regenerativa de Barcelona (CMRB); Barcelona; Spain.
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Gly241Arg (c.721G>A) (G202R); ClinVar=VCV000093459; Zygosity=Heterozygous (BNLC).
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (BNLC).
CC   Discontinued: ECACC; 66540069; true.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61268; Gaucher disease
DI   ORDO; Orphanet_355; Gaucher disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 16-04-14; Last updated: 10-04-25; Version: 26
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