ID   STBCi018-A
AC   CVCL_RB68
SY   SFC815-03-06
DR   BioSamples; SAMEA104493633
DR   EBiSC; STBCi018-A
DR   ECACC; 66540673
DR   hPSCreg; STBCi018-A
DR   Wikidata; Q54956384
CC   From: StemBANCC; Oxford; United Kingdom.
CC   Sequence variation: Mutation; HGNC; HGNC:4162; GARS1; Simple; p.Ser635Leu (c.1904C>T) (S581L); ClinVar=VCV000209157; Zygosity=Unspecified (EBiSC=STBCi018-A).
CC   Discontinued: ECACC; 66540673; true.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C122659; Charcot-Marie-Tooth disease type 2D
DI   ORDO; Orphanet_99938; Autosomal dominant Charcot-Marie-Tooth disease type 2D
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_RB69 ! STBCi018-B
OI   CVCL_RB70 ! STBCi018-C
SX   Male
AG   35-39Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 11
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