ID   ESi003-A
AC   CVCL_V154
SY   [CRTRd]FiPS3819-4F-2
DR   BioSamples; SAMEA3303029
DR   EBiSC; ESi003-A
DR   ECACC; 66540064
DR   hPSCreg; ESi003-A
DR   SKIP; SKIP002421
DR   Wikidata; Q54832762
WW   Info; P-CMR[C]; -; https://p-cmrc.cat/wp-content/uploads/2020/06/VFDeposito_Lineas_-CRTRdFiPS3819-4F-2.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/solicitud_deposito_Lineas_CRTRd-FiPS3819-4F-2.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexo_deposito_CRTRd_FiPS3819-4F-2.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:11055; SLC6A8; Simple; p.Gly466Arg (c.1396G>A); ClinVar=VCV000804101; Zygosity=Hemizygous (BNLC).
CC   Discontinued: ECACC; 66540064; true.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C125665; Cerebral creatine deficiency syndrome 1
DI   ORDO; Orphanet_52503; X-linked creatine transporter deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Adult
CA   Induced pluripotent stem cell
DT   Created: 16-04-14; Last updated: 10-04-25; Version: 24
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