ID   ESe026-A
AC   CVCL_C768
SY   ES[11EM]; ES[11-EM]; ES-11EM; ES11-EM
DR   hPSCreg; ESe026-A
DR   SKIP; SKIP002347
DR   Wikidata; Q54832750
WW   Info; P-CMR[C]; -; https://p-cmrc.cat/wp-content/uploads/2020/06/Documento_Deposito_Lineas_v32_ES11-EM.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/879042/ES-11-EM.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/879055/Anexos_ES-11-EM.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   HLA typing: A*01,02; B*41,53; C*04,17; DQB1*03:06; DRB1*13,15 (BNLC).
CC   Sequence variation: Mutation; HGNC; HGNC:3513; EXT2; Simple; p.Gln162Argfs*108 (c.484delC); Zygosity=Heterozygous (BNLC).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C5183; Hereditary multiple exostoses
DI   ORDO; Orphanet_321; Multiple osteochondromas
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 22-10-12; Last updated: 10-04-25; Version: 22
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